Gene Summary

Name:
furin (paired basic amino acid cleaving enzyme)
Synonyms:
PACE,  Pcsk3,  SPC1,  Fur,  9130404I01Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Furintm1b(EUCOMM)Wtsi HET Early adult 9.94×10-12
preweaning lethality, complete penetrance Furintm1b(EUCOMM)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Furintm1b(EUCOMM)Wtsi HOM   E12.5 0.00
brachydactyly Furintm1b(EUCOMM)Wtsi HET Early adult 5.05×10-08

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Liver  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Lymph node  Wholemount images heterozygote 100% (4 of 4)
Mammary gland  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Oral epithelium  Wholemount images heterozygote 75% (3 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Peyer's patch  Wholemount images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images heterozygote 50% (2 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Small intestine  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vascular system  Wholemount images heterozygote 100% (4 of 4)
Aorta N/A heterozygote 100% (4 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 25% (1 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Lung N/A heterozygote Not available
Mandibular process N/A heterozygote Not available
Maxillary process N/A heterozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Skin N/A heterozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

64 Images

Adult LacZ

LacZ Images Wholemount

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Furin mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Furin by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sugarman Brachydactyly
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... OMIM:272150
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... OMIM:112700
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... ORPHA:85169
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... OMIM:606835
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... OMIM:615072
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly OMIM:176305
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger OMIM:190680
Cleidorhizomelic Syndrome
Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral single transver... ORPHA:1453
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... OMIM:112500
Brachydactyly, Type A1, B
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... OMIM:607004
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Aplasia of the middle phalanges of the toes, Short middle... OMIM:112800
Brachydactyly Type A2
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... ORPHA:93396
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology ORPHA:1078
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... OMIM:211369
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Banki Syndrome
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... ORPHA:1228
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... OMIM:120400
Arthrogryposis, Distal, Type 2B2
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... OMIM:618435
Cooks Syndrome
Triphalangeal thumb, Dystrophic toenail, Broad thumb, Split hand, Brachydactyly, Dystrophic finge... ORPHA:1487
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Brachydactyly Type C
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... ORPHA:93384
Multiple Synostoses Syndrome
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... ORPHA:3237
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly ORPHA:1471
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Tarsal-Carpal Coalition Syndrome
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... OMIM:186570
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Postaxial hand polydactyly, Short foot, Broad palm OMIM:611263
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Distal foot symph... OMIM:185700
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Epiphyseal Dysplasia, Multiple, 4
Short metacarpal, Hip dysplasia, Flat capital femoral epiphysis, Brachydactyly, Epiphyseal dyspla... OMIM:226900
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Chromosome 15Q13.3 Deletion Syndrome
Synophrys, Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Emery-Nelson Syndrome
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... ORPHA:1927
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short 5th metacarpal, Short finger, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
2q37 monosomy
Brachydactyly DECIPHER:44
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Peripheral Dysostosis
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly ORPHA:1795
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:9
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... OMIM:112910
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads, Short humerus OMIM:601438
Chromosome 20Q11-Q12 Deletion Syndrome
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly OMIM:614257
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Toe syndactyly, Absent middle phalanx of 5th finger, Bilateral triphalangeal... OMIM:124480
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Synophrys, Broad thumb, Brachydact... ORPHA:1278
Camptobrachydactyly
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... ORPHA:1319
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... OMIM:193530
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Brachydactyly Type E
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... ORPHA:93387
Multiple Metaphyseal Dysplasia
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Abnormality of tibia morphology,... ORPHA:93430
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... ORPHA:93308
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Camptobrachydactyly
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
20Q11.2 Microdeletion Syndrome
Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly ORPHA:444051
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Brachydactyly, Sparse hair, Nail dystrophy OMIM:619692
Brachydactyly, Type E2
Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... OMIM:617405
Odontotrichoungual-Digital-Palmar Syndrome
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... OMIM:601957
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Metaphyseal Acroscyphodysplasia
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Abnormal diaphysis morpholog... ORPHA:1240
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... ORPHA:750
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Abnormal pelvic girdle bone morphology, E... ORPHA:968
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Orofaciodigital Syndrome Xviii
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... OMIM:617927
Acromicric Dysplasia
Abnormal eyebrow morphology, Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Lon... ORPHA:969
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Brachydactyly, Tarsal synostosi... OMIM:610017
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Brachydactyly ORPHA:1277
Hypochondroplasia
Short toe, Genu varum, Abnormality of the elbow, Abnormal pelvic girdle bone morphology, Brachyda... ORPHA:429
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal ORPHA:228190
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Brachydactyly, Type E1
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly OMIM:113300
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Uncombable hair, Abnormality of the hand, Brachydactyly, Sparse hair ORPHA:1264
Hypochondroplasia
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand, ... OMIM:146000
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Bowing of the legs, Hirsutism, Lower limb undergrowth, Brachydactyly OMIM:612847
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Fibular a... OMIM:228900
Craniosynostosis 3
Single transverse palmar crease, Hallux valgus, Low anterior hairline, Brachydactyly OMIM:615314
Sillence Syndrome
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... ORPHA:3168
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Keipert Syndrome
Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Brachydactyly, Broad distal phalanx of fi... OMIM:301026
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... OMIM:609616
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly ORPHA:1406
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly OMIM:132450
Muenke Syndrome
Short middle phalanx of toe, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, Cli... OMIM:602849
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Reduced proximal interphalangeal joint space, Coxa vara, Short femoral neck, Flatten... ORPHA:166011
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Cone-shaped epiphysis, Small hand, Brachydactyly OMIM:618618
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Sparse lateral eyebrow, Avascular necrosis of the capital femoral epiphy... OMIM:190351
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... ORPHA:65759
Metatropic Dysplasia
Hyperplasia of the femoral trochanters, Metaphyseal irregularity, Genu valgum, Flared iliac wing,... OMIM:156530
Brachydactyly, Type B1
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... OMIM:113000
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Dislocated radial head, Epiphyseal dyspla... ORPHA:166016
Anauxetic Dysplasia 2
Coxa valga, Coxa vara, Short femoral neck, Hypoplastic iliac body, Hypoplasia of the femoral head... OMIM:617396
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... OMIM:614078
Cornelia De Lange Syndrome 2
Limited elbow movement, Small hand, Synophrys, Clinodactyly, Long eyelashes, Thick eyebrow, Hirsu... OMIM:300590
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Gastroschisis, Hypoplastic le... ORPHA:2476
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Synophrys, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, ... OMIM:605282
Multiple Epiphyseal Dysplasia Type 4
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... ORPHA:93307
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Short distal phalanx of finger ORPHA:1547
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... OMIM:177170
Brachydactylous Dwarfism, Mseleni Type
Short toe, Protrusio acetabuli, Brachytelomesophalangy, Abnormality of the wrist, Osteoarthritis ... ORPHA:2619
Leri Pleonosteosis
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Elbow disloc... ORPHA:2900
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Abnormal pelvic girdle bone mo... ORPHA:2928
Jeune Syndrome
Toe syndactyly, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, Brachydactyly... ORPHA:474
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger, Brachydactyly ORPHA:1858
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Coxa vara, Short metacarpal, Brachydactyly, Deviation of finger, Deformed humeral he... ORPHA:2831
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Hypoplastic inferior ... OMIM:608940
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Preaxial hand polydactyly, Abnormality of the elbow, Abnormality of the hume... ORPHA:3098
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Short phalanx of finger, Small hand, Widow's peak, Clinodactyly, Broad finger, Brachydactyly, Thi... OMIM:614684
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Syndactyly,... ORPHA:88630
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... OMIM:300244
Nicolaides-Baraitser Syndrome
Alopecia, Abnormal finger morphology, Abnormal metacarpal morphology, Clubbing of toes, Long eyel... ORPHA:3051
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... OMIM:186500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Sparse scalp hair, Adducted thumb, Single transverse palmar crease, Brach... OMIM:620062
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Frontal upsweep of hair, Clinodactyly, Brachydactyly, Syndactyly, ... OMIM:600325
Chromosome 8Q22.1 Duplication Syndrome
Short phalanx of finger, Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Broad ... OMIM:151200
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Short foot, Cutaneous finger syn... ORPHA:363417
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Short thumb, Brachydactyly OMIM:165800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnormal metacarpal morpholo... ORPHA:2511
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Pseudopseudohypoparathyroidism
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal phalanx of the thumb, ... ORPHA:79445
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Clinodactyly, Metaphyse... OMIM:184250
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Alopeci... OMIM:600705
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Premature gr... OMIM:148820
Hand-Foot-Genital Syndrome
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... OMIM:140000
Craniofrontonasal Dysplasia
Camptodactyly of finger, Finger syndactyly, Widow's peak, Hand polydactyly, Clinodactyly of the 5... ORPHA:1520
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Split hand, Bra... ORPHA:2850
11Q22.2Q22.3 Microdeletion Syndrome
Small hand, Clinodactyly of the 5th finger, Thick eyebrow, Bilateral single transverse palmar cre... ORPHA:444002
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... OMIM:617102
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Brachydactyly ORPHA:40
Potocki-Shaffer Syndrome
Brachydactyly, Single transverse palmar crease, Sparse lateral eyebrow, 2-5 finger cutaneous synd... OMIM:601224
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Brachydactyly ORPHA:1436
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormal eyebrow morphology, Abnormality of the humerus, Synostosis of carpal bones,... ORPHA:2496
Cranioectodermal Dysplasia
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... ORPHA:1515
Dermatoosteolysis, Kirghizian Type
Dystrophic toenail, Abnormality of the wrist, Abnormal diaphysis morphology, Abnormality of the h... ORPHA:1657
Erythrokeratodermia Variabilis
Alopecia, Tapered finger, Brachydactyly, Generalized hirsutism, Abnormal hair morphology, Patchy ... ORPHA:317
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... OMIM:250420
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Short greater sciat... OMIM:187601
Anauxetic Dysplasia 3
Hip subluxation, High anterior hairline, Genu valgum, Metaphyseal cupping, Sparse scalp hair, Sho... OMIM:618853
Chromosome 15Q26-Qter Deletion Syndrome
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly OMIM:612626
Intellectual Developmental Disorder, Autosomal Dominant 59
Short palm, Highly arched eyebrow, Short foot, Brachydactyly OMIM:618522
Non-Distal Monosomy 10Q
Synophrys, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Overlappin... ORPHA:1581
Abruzzo-Erickson Syndrome
Short toe, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Brachydactyly ORPHA:921
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Long eyelashes, Syndactyly, Brachyda... OMIM:619451
Lowry-Wood Syndrome
Coxa vara, Irregular epiphyses, Elbow dislocation, Dislocated radial head, Epiphyseal dysplasia, ... ORPHA:1824
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Clinodactyly of the 5th finger, Brachydactyly OMIM:244600
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... OMIM:615986
Acrocephalopolydactyly
Brachydactyly, Short long bone ORPHA:221054
Odontochondrodysplasia 1
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... OMIM:184260
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Brac... OMIM:614613
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... OMIM:617604
Roifman Syndrome
Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Promin... OMIM:616651
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morph... ORPHA:3409
Frontonasal Dysplasia 1
Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Camptodactyly, W... OMIM:136760
Pelviscapular Dysplasia
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur, Congenital hip... ORPHA:93333
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1777
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Synophrys, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly ORPHA:1390
Moebius Syndrome
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Clino... OMIM:157900
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Foot polydactyly, Short finger, Hand polydactyly, Clinodactyly, Brac... OMIM:258860
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, Hip dysplasia, Clin... OMIM:620073
Roifman Syndrome
Short toe, Hip contracture, Delayed proximal femoral epiphyseal ossification, Clinodactyly of the... ORPHA:353298
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Laurence-Moon Syndrome
Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases ORPHA:2377
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... OMIM:142900
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Multiple rows of eyelashes, Short long bone, Abnormal metatarsal morphology, Facial h... ORPHA:163654
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... ORPHA:3121
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Abnormality of the humerus, Adducted ... ORPHA:1794
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... ORPHA:710
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Short foot, Short metacarpal, Short l... OMIM:611717
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short long bone OMIM:615633
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Hallux valgus, Toe syndactyly, Synophrys, Short distal phalan... ORPHA:1327
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Arachnodactyly, Sparse scalp hair, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis ORPHA:2824
Lowry-Wood Syndrome
Elbow flexion contracture, Hip dislocation, Irregular epiphyses, Clinodactyly of the 5th finger, ... OMIM:226960
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Sparse scalp hair, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory ... OMIM:210720
Dyggve-Melchior-Clausen Disease
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... OMIM:223800
Marinesco-Sjögren Syndrome
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fing... ORPHA:559
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal widening, Squar... OMIM:618961
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Short palm, Brachydactyly ORPHA:3238
Chst3-Related Skeletal Dysplasia
Sparse eyebrow, Genu valgum, Abnormality of the elbow, Short metacarpal, Irregular epiphyses, Sma... ORPHA:263463
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
2-3 toe syndactyly, Short toe, Tapered finger, Hallux valgus, Short finger, Broad hallux, Brachyd... OMIM:618659
Progressive Osseous Heteroplasia
Brachydactyly ORPHA:2762
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Schaaf-Yang Syndrome
Tapered finger, Small hand, Clinodactyly, Camptodactyly, Thick eyebrow, Narrow palm, Brachydactyl... OMIM:615547
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Short foot, Brachydactyly OMIM:266265
Anauxetic Dysplasia 1
Short toe, Hip contracture, Short foot, Hypoplastic ilia, Elbow flexion contracture, Short finger... OMIM:607095
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Horizontal eyebrow, Hip dysplasia, Synophrys, Clinodactyly of the 5th finger, Long eyelashes, Bra... OMIM:618381
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Short femur, Femoral bowing, Brachydactyly, Hypoplastic scapulae, Meta... ORPHA:440354
Diamond-Blackfan Anemia 21
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Horizontal eyeb... OMIM:620072
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Low anterior hairline, Coxa vara, Short ... OMIM:300232
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Brachydactyly OMIM:612463
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Synophrys, Abnormal metacarpal morphology, Brachydactyly, Short distal phalanx of fi... ORPHA:1295
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Carpenter Syndrome 1
Genu varum, Genu valgum, Aplasia/Hypoplasia of the middle phalanges of the toes, Coxa valga, Join... OMIM:201000
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Short toe, Upper limb undergrowth, Short metacarpal, Broad phalanx, Broa... ORPHA:439822
Atelosteogenesis Type Ii
Short phalanx of finger, Genu valgum, Upper limb undergrowth, Ulnar deviation of the hand or of f... ORPHA:56304
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Clinodactyly of the 5th finger, Single transverse palmar crease, Brachydactyl... OMIM:236500
14Q24.1Q24.3 Microdeletion Syndrome
Synophrys, Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supina... ORPHA:401935
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Long eyelashes, Brachydactyly ORPHA:2863
Acrodysostosis
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... ORPHA:950
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Synophrys, Clinodactyly, Brachydactyly, Highly arched eyebrow ORPHA:313781
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Aplasia/Hypoplasia of the eyebrow, Short long bone, Flat acetabular roof, Fine hair,... OMIM:614091
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615994
Kury-Isidor Syndrome
Alopecia, Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker bo... OMIM:619762
Spastic Paraplegia 20, Autosomal Recessive
Clinodactyly, Camptodactyly, Hammertoe, Brachydactyly, Ulnar deviation of the hand, Short foot OMIM:275900
Mohr Syndrome
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... OMIM:252100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Broad long bone diaphyses, Short iliac bones, Supernumerary nipple, Acetabular spurs, Brachydacty... OMIM:614376
Coffin-Siris Syndrome 2
Sparse scalp hair, Long eyelashes, Hirsutism, Sandal gap, Brachydactyly, Short distal phalanx of ... OMIM:614607
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Cono-Spondylar Dysplasia
Short 4th toe, Short lower limbs, Short nail, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:420794
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the elbow, Brachydactyly, Lo... ORPHA:2701
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Absent tibia, Short digit, Hypopla... OMIM:613091
Achondroplasia
Short long bone, Flat acetabular roof, Short proximal phalanx of finger, Brachydactyly, Bowing of... ORPHA:15
Craniosynostosis, Herrmann-Opitz Type
Split hand, Finger syndactyly, Brachydactyly ORPHA:2145
Opsismodysplasia
Tapered finger, Hypoplastic pubic bone, Hypoplastic ischia, Broad thumb, Brachydactyly, Abnormal ... ORPHA:2746
16P12.1P12.3 Triplication Syndrome
2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, Clinodactyly of the 4th fing... ORPHA:485405
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Synophrys, Frontal balding, Hirsutism, Brachydactyly, Cubitus valgus, Fac... ORPHA:247768
Larsen Syndrome
Accessory carpal bones, Finger syndactyly, Short nail, Broad thumb, Brachydactyly, Short distal p... ORPHA:503
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Hip dislocatio... ORPHA:1005
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly OMIM:610498
Schneckenbecken Dysplasia
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... OMIM:269250
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Abnormal pelvis bone mo... ORPHA:1427
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Hirsutism, Brachydactyly, Short clavicles, Bent long bone OMIM:614592
Spinocerebellar Ataxia, Autosomal Recessive 20
Clinodactyly, Camptodactyly, Brachydactyly, Hypertrichosis, Talipes equinovarus OMIM:616354
15Q24 Microdeletion Syndrome
High anterior hairline, Small hand, Broad eyebrow, Clinodactyly, Abnormal thumb morphology, Abnor... ORPHA:94065
Suleiman-El-Hattab Syndrome
Polydactyly, Synophrys, Clinodactyly, Frontal hirsutism, Single transverse palmar crease, Hirsuti... OMIM:618950
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Single transverse palmar crease, Clinodactyly, Camptodactyly, Brachydactyly OMIM:613604
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... OMIM:609945
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Genu valgum, Clinodactyly of the 2nd finger, Monkey wrench femoral neck, Fing... OMIM:618870
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Broad thumb, Brachydactyly, Metaphyseal widening OMIM:612813
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Hall-Riggs Syndrome
Thick hair, Brachydactyly, Coarse hair, Abnormal metaphysis morphology, Abnormal epiphysis morpho... ORPHA:2107
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Broad thumb, Brachydactyly, Short dis... ORPHA:1784
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Brachydactyly ORPHA:3085
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs, Brachydactyl... OMIM:615503
2Q37 Microdeletion Syndrome
Sparse eyebrow, Sparse scalp hair, Short foot, Short metacarpal, Finger syndactyly, Toe syndactyl... ORPHA:1001
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Brachydactyly OMIM:234250
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Tapered finger, Frontal upsweep of hair, Synophrys, Clinodactyly of the 5th f... OMIM:617061
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Postaxial foot polydactyly, Clubbing, Brachydactyly,... OMIM:619143
Greenberg Dysplasia
Abnormal pelvis bone ossification, Brachydactyly ORPHA:1426
Frank-Ter Haar Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachyda... ORPHA:137834
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Synophrys... ORPHA:251014
Laron Syndrome
Short toe, Abnormality of the elbow, Brachydactyly ORPHA:633
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Small hand, Coarse hair, Clinodactyly of the 5th finger, Brachydactyly, Abnorm... ORPHA:1786
Aarskog-Scott Syndrome
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Widow's peak, Clinodactyly... OMIM:305400
Al-Raqad Syndrome
Sandal gap, Brachydactyly OMIM:616459
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Abnormal hair whorl, Brachydactyly OMIM:614261
Short Stature With Microcephaly And Distinctive Facies
Sparse eyebrow, Sparse scalp hair, Short digit, Syndactyly, Proximal placement of thumb, Brachyda... OMIM:615789
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Short long bone, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, ... OMIM:615630
Specific Granule Deficiency 2
Hirsutism, Sandal gap, Brachydactyly OMIM:617475
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... OMIM:617866
Rubinstein-Taybi Syndrome
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... ORPHA:783
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ulnar deviation of the hand or of fingers of the hand, Hypoplasia of the radius, Slender long bon... OMIM:602613
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Epiphyseal stippling, Brachydactyly ORPHA:1914
Cleidocranial Dysplasia
Dystrophic fingernails, Dystrophic toenail, Genu valgum, Tapered finger, Coxa vara, Hypoplastic i... ORPHA:1452
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Synophrys, Clinodactyly of the 5th finger, Brachydactyly, Talipes equinovarus ORPHA:3306
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Sparse scalp hair, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... ORPHA:502
Lujan-Fryns Syndrome
Camptodactyly of finger, Brachydactyly, Arachnodactyly ORPHA:776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Hypoplasia of the radius, Syndactyly, Brachydactyly, Postaxial polydactyly OMIM:617895
Robinow Syndrome, Autosomal Recessive 2
Clinodactyly, Camptodactyly, Long eyelashes, Broad hallux, Broad thumb, Sandal gap, Brachydactyly... OMIM:618529
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, Split hand, ... ORPHA:1860
Thanatophoric Dysplasia
Hip dysplasia, Abnormal sacroiliac joint morphology, Abnormal ilium morphology, Brachydactyly, Ab... ORPHA:2655
Lymphedema-Hypoparathyroidism Syndrome
Increased carrying angle, Hypertrichosis, Brachydactyly OMIM:247410
Fountain Syndrome
Large hands, Synophrys, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, Thi... ORPHA:3219
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Broad thumb, Abnormal hair pattern, Brachydactyly, La... ORPHA:1770
Temtamy Syndrome
Hip dislocation, Short 2nd toe, Brachydactyly, Highly arched eyebrow, Talipes equinovarus OMIM:218340
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short foot, Sandal gap, Small hand, Brachydactyly OMIM:300354
Feingold Syndrome
Hallux valgus, Toe syndactyly, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Brach... ORPHA:1305
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Sandal gap, Joint contracture of the 5th finger, Brachydactyly, Joint contrac... OMIM:618914
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:151210
Adams-Oliver Syndrome
Alopecia, Abnormality of the upper limb, Finger syndactyly, Abnormal metacarpal morphology, Split... ORPHA:974
Jansen-De Vries Syndrome
Short foot, Small hand, Brachydactyly OMIM:617450
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Brachydactyly ORPHA:79320
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly, ... OMIM:614800
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Bilateral single transverse palmar creases, Abnormal hair pattern, Brach... ORPHA:2083
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Dislocated radial... OMIM:617425
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Patchy alopecia, Brachydactyly, Sparse hair, Broad distal phalanx of finger OMIM:617763
Tonne-Kalscheuer Syndrome
Broad thumb, Fine hair, Brachydactyly OMIM:300978
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Generalized hirsutism, Brachydactyly ORPHA:1563
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short femoral neck, Short metacarpal, Small hand, Clinodactyly, Breast hypoplasia, Hypoplastic pe... OMIM:614813
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Short femoral neck, Coxa vara, Synophrys, Radioulnar synostosis, Clinodactyly... OMIM:614701
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... OMIM:601559
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Disproportionate shortening of the tibia, Cone-shaped epiphysis, Abnorm... ORPHA:1505
Achondroplasia
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... OMIM:100800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femoral neck, Metaphyseal cupp... OMIM:618019
Codas Syndrome
Short metacarpal, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Brachydacty... ORPHA:1458
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Brachydactyly ORPHA:93262
Oculodentodigital Dysplasia
Camptodactyly of finger, Preaxial hand polydactyly, Curly hair, Finger syndactyly, Brittle hair, ... ORPHA:2710
Andersen Cardiodysrhythmic Periodic Paralysis
Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Toe syndacty... OMIM:170390
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Atelosteogenesis, Type I
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia... OMIM:108720
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Symphalangism affecting the phalanges of the hand, High anterior hairline, Clinodactyly of the 5t... ORPHA:1292
Coffin-Siris Syndrome 6
Clinodactyly, Brachydactyly OMIM:617808
Pseudohypoparathyroidism, Type Ia
Short toe, Short metacarpal, Short finger, Brachydactyly, Short metatarsal OMIM:103580
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Coxa valga, Clinodactyly of the 5th finger, Brachydactyly ORPHA:2163
Smith-Magenis Syndrome
Synophrys, Abnormal forearm morphology, Brachydactyly, Short palm, Broad palm OMIM:182290
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Limited elbow movement, Small hand, Toe syndactyly, Synophrys, Clinodactyly of ... OMIM:610759
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... ORPHA:63260
Roberts Syndrome
Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... ORPHA:3103
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Cleft palate, Omphalocele, ... OMIM:313850
Chitayat Syndrome
Hallux valgus, Brachydactyly OMIM:617180
Aredyld Syndrome
Brachydactyly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal pelvic girdle bone m... ORPHA:1133
Corneodermatoosseous Syndrome
Abnormal finger morphology, Abnormal metacarpal morphology, Abnormality of the hand, Brachydactyl... ORPHA:3194
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Sparse eyebrow, Short metacarpal, Metaphyseal chondrodysplasia, Brachydac... OMIM:250410
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly ORPHA:464288
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly ORPHA:436245
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y-shaped metacarpal... OMIM:277170
Coffin-Siris Syndrome 7
Thick eyebrow, Clinodactyly of the 5th finger, Sparse scalp hair, Brachydactyly OMIM:618027
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Clinodactyly, Scarring alopecia of scalp, Broad hallux, Sandal gap, Brachydactyly, 3-4 toe syndac... OMIM:618727
Cranioectodermal Dysplasia 3
2-3 toe syndactyly, Short nail, Fine hair, Sandal gap, Brachydactyly, 2-4 toe syndactyly, Sparse ... OMIM:614099
Distal Monosomy 10Q
Tapered finger, Hip dysplasia, Widow's peak, Clinodactyly, Hip dislocation, Clinodactyly of the 5... ORPHA:96148
Gorlin Syndrome
Palmar pits, Brachydactyly, Arachnodactyly ORPHA:377
Radio-Tartaglia Syndrome
High anterior hairline, Tapered finger, Synophrys, Long eyebrows, Long eyelashes, Hirsutism, Brac... OMIM:619312
Rhyns Syndrome
Brachydactyly, Radial bowing, Short femoral neck, Short long bone OMIM:602152
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Brachydactyly ORPHA:2180
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Foot polydactyly, Hand... OMIM:208500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Elbow dislocation, Brachydactyly, Postaxial hand polydactyly, Low... ORPHA:2916
Rin2 Syndrome
Hirsutism, Sparse scalp hair, Brachydactyly ORPHA:217335
Lethal Kniest-Like Dysplasia
Abnormality of the ischium, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Broad long bones,... ORPHA:2347
Grange Syndrome
Syndactyly, Finger clinodactyly, Brachydactyly OMIM:602531
Monosomy 18P
Low posterior hairline, Alopecia, Brachydactyly ORPHA:1598
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Hallux valgus, Short metacarpal, Absent eyelashes, Absent eyebrow, Metaphyseal chondrod... ORPHA:166035
Endocrine-Cerebroosteodysplasia
Talipes equinovarus, Hitchhiker thumb, Brachydactyly, Syndactyly, Single transverse palmar crease... OMIM:612651
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Tapered finger, Hip contracture, Small hand, Clinodactyly, Clinodactyly of the 5th finger, Brachy... ORPHA:488642
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly OMIM:618265
Saethre-Chotzen Syndrome
Triphalangeal thumb, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th finger, Brachydact... ORPHA:794
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Brachydactyly ORPHA:93274
Robinow Syndrome, Autosomal Recessive 1
Small hand, Aplasia/Hypoplasia involving the metacarpal bones, Proximal/middle symphalangism of 5... OMIM:268310
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormal femoral epiphysis morphology ORPHA:3218
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly OMIM:614526
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... ORPHA:989
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodactyly, Metatarsal... ORPHA:95699
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short foot, Thick eyebrow, Patchy alopecia, Brachydactyly, Cubitus valgus, Short distal phalanx o... OMIM:300534
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Brachydactyly ORPHA:171866
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Metaphyseal irregularity, Genu valgum, Tapered finger, Short long bone, Hip dislocation, Thick ey... OMIM:616007
Acrodysostosis 1 With Or Without Hormone Resistance
Short phalanx of finger, Short metacarpal, Long hallux, Epiphyseal stippling, Cone-shaped epiphys... OMIM:101800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing... OMIM:143095
Orofaciodigital Syndrome Type 6
Foot polydactyly, Mesoaxial polydactyly, Hand polydactyly, Syndactyly, Preaxial polydactyly, Brac... ORPHA:2754
Coffin-Lowry Syndrome
Tapered finger, Short metacarpal, Broad finger, Abnormal diaphysis morphology, Narrow iliac wing,... ORPHA:192
Nicolaides-Baraitser Syndrome
Short phalanx of finger, Hallux valgus, Sparse hair, Low posterior hairline, Long fingers, Broad ... OMIM:601358
Trisomy 9P
Brachydactyly, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases ORPHA:236
Pseudoaminopterin Syndrome
Hip subluxation, Sparse scalp hair, Short 4th metacarpal, Limited elbow movement, Frontal upsweep... ORPHA:221120
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Clinodactyly, Camptodactyly, Partial duplication of t... OMIM:616331
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypoplastic iliac wing, Aplasia/Hypoplasia of the eyebrow, Coxa vara, Narrow pelvis bone, Clinoda... ORPHA:2637
Fgfr2-Related Bent Bone Dysplasia
Hypoplastic ischia, Bowing of the legs, Incomplete ossification of pubis, Hirsutism, Brachydactyl... ORPHA:313855
Smith-Magenis Syndrome
Toe syndactyly, Synophrys, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly ORPHA:819
Adams-Oliver Syndrome 5
Syndactyly, Dystrophic toenail, Brachydactyly OMIM:616028
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly OMIM:600092
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Clinodactyly, Camptodactyly, Facial hypertrichosis, Brachydactyly, Talipes equinovarus ORPHA:397709
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, Broad phalanges of the hand, Preaxial hand polydactyly, Limited elbow mo... ORPHA:508533
Atelosteogenesis Type I
Short long bone, Short femur, Brachydactyly, Abnormal ossification involving the femoral head and... ORPHA:1190
21Q22.11Q22.12 Microdeletion Syndrome
Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Short proximal p... ORPHA:261323
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Tapered finger, Camptodactyly, Long eyelashes, Breast hypoplasia, Brachydactyly, Finger clinodact... OMIM:601353
Trisomy 20P
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Coarse hair, Brachydactyly... ORPHA:261318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type