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
embryonic lethality prior to tooth bud stage Furintm1b(EUCOMM)Wtsi HOM   E12.5 0.00
abnormal vibrissa morphology Furintm1b(EUCOMM)Wtsi HET Early adult 1.01×10-11
preweaning lethality, complete penetrance Furintm1b(EUCOMM)Wtsi HOM   Early adult 0.00
brachydactyly Furintm1b(EUCOMM)Wtsi HET Early adult 3.32×10-08

Download data as:  TSV  XLS

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Select physiological systems to view:
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

64 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 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
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... ORPHA:1453
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Type A brachydactyly, Short middle phalanx of the 5th fin... OMIM:112800
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology ORPHA:3314
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous... OMIM:211369
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology ORPHA:1078
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Banki Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carp... ORPHA:1228
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Heart-Hand Syndrome, Spanish Type
Brachydactyly, Ulnar deviation of the 2nd finger, Short middle phalanx of finger OMIM:140450
Gombo Syndrome
Brachydactyly, Clinodactyly, Radial deviation of finger OMIM:233270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Dystrophic toenail, Dystrophic fingernails, Broad thumb, Spli... ORPHA:1487
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... ORPHA:3237
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Tarsal-Carpal Coalition Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... OMIM:186570
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger OMIM:112410
Symphalangism, Distal
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... OMIM:185700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Synophrys OMIM:612001
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short metacarpal, Short phalanx of finger ORPHA:1276
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Emery-Nelson Syndrome
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Contractures of ... ORPHA:1927
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Peripheral Dysostosis
Brachydactyly, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
2q37 monosomy
Brachydactyly DECIPHER:44
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Short finger, Short toe OMIM:604381
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Flared metaphysis, Short finger,... OMIM:607095
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Nail dystrophy, Spl... OMIM:106990
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Short middle phalanx of finger ORPHA:391646
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia ORPHA:9
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Hirschsprung Disease-Type D Brachydactyly Syndrome
Brachydactyly, Short distal phalanx of the thumb, Short phalanx of hallux ORPHA:2150
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Adducted thumb, Finger clinodactyly, Camptodactyly OMIM:614257
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Toe syndactyly, Bilateral triphalangeal thumbs, Triphalangeal thumb, Nail dystroph... OMIM:124480
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Thick eyebrow, Preaxial hand polydactyly, Syno... ORPHA:1278
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... ORPHA:79445
Brachydactyly Type E
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... ORPHA:93387
Weyers Acrofacial Dysostosis
Brachydactyly, Short palm, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ... OMIM:193530
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Short finger, Short toe, Pili ... OMIM:191482
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short 5th metacarpal, Single transverse palmar crease, Short distal phalanx of the... ORPHA:370010
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metacarpal, Short metatarsal OMIM:113400
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Mesomelia, Abnormal shoulder morphology ORPHA:1277
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger ORPHA:1937
Brachydactyly, Type E2
Brachydactyly, Short metacarpal, Short metatarsal OMIM:613382
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Meta... ORPHA:750
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Camptodactyly, Finger clinodactyly ORPHA:444051
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... OMIM:601957
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Humeroradial synostosis, Tarsal synostosi... OMIM:610017
Acromicric Dysplasia
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Short metacarpal,... ORPHA:969
Mal De Meleda
Brachydactyly, Congenital symmetrical palmoplantar keratosis OMIM:248300
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Abno... ORPHA:2370
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Rhizomelia, Limi... OMIM:100800
Keipert Syndrome
Brachydactyly, Clinodactyly, Broad hallux, Broad distal phalanx of finger, Broad thumb OMIM:301026
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Limb undergrowth, Micromelia OMIM:269870
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Sparse hair, Uncombable hair, Abnormality of the hand ORPHA:1264
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger ORPHA:3303
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly, High anterior hairline, Sparse lateral eyebrow OMIM:618879
Brachydactyly, Type E1
Brachydactyly, Type E brachydactyly, Short metacarpal, Short clavicles, Short metatarsal OMIM:113300
Craniosynostosis 3
Brachydactyly, Low anterior hairline, Single transverse palmar crease, Hallux valgus OMIM:615314
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Lower limb undergrowth, Hirsutism OMIM:612847
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Split hand, Abnormal metacarpal morphology ORPHA:1406
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal proximal phalanx morphology... ORPHA:3168
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Abnormality ... ORPHA:2619
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Micromelia, Ulnar deviation of finge... ORPHA:2928
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Fixed... ORPHA:166016
Multiple Synostoses Syndrome 4
Brachydactyly, Overlapping toe, Tarsal synostosis OMIM:617898
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia OMIM:132450
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... ORPHA:166011
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Muenke Syndrome
Brachydactyly, Clinodactyly, Thimble-shaped middle phalanges of hand, Cone-shaped epiphyses of th... OMIM:602849
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Hypoplasia of the femoral head, Short femoral neck, Cubitus valgus, Me... OMIM:617396
Metatropic Dysplasia
Brachydactyly, Halberd-shaped pelvis, Metaphyseal irregularity, Flared iliac wing, Flared humeral... OMIM:156530
Summitt Syndrome
Brachydactyly, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyly of the 5th finge... ORPHA:3210
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Mesomelic arm shortening, Abnormal han... OMIM:300244
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... OMIM:190351
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification OMIM:618618
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Short 3rd toe, Short 5th toe... OMIM:211920
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricular septa... ORPHA:2476
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Synophrys, Horizont... OMIM:618381
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Highly arched eyebrow, Radiouln... OMIM:605282
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... ORPHA:65759
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Limb undergrowth, Micromelia, Massively thickened long bone cortices OMIM:122900
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Proximal place... OMIM:300590
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Short metacarpal, Short toe, Genu valgum, Short foot OMIM:614078
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Short distal... ORPHA:3098
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Leri Pleonosteosis
Brachydactyly, Abnormality of epiphysis morphology, Elbow dislocation, Abnormality of the metaphy... ORPHA:2900
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Widow's peak, Thick eyebrow, Short phalanx of finger, Small hand, Br... OMIM:614684
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger ORPHA:1858
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Short thumb, Broad hallux OMIM:165800
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Short 1st metacarpal, Metaphy... OMIM:251450
Intellectual Developmental Disorder, Autosomal Dominant 59
Brachydactyly, Short palm, Short foot, Highly arched eyebrow OMIM:618522
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Phenobarbital Embryopathy
Brachydactyly, Aplasia/Hypoplasia of fingers ORPHA:1919
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Highly arched eyebrow, Arachnodactyly, Rudi... OMIM:600325
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones ORPHA:40
Hand-Foot-Genital Syndrome
Brachydactyly, Small thenar eminence, Ulnar deviation of the 2nd finger, Delayed tarsal ossificat... OMIM:140000
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Brachydactyly, Tibial deviation of... ORPHA:363417
Mesomelia-Synostoses Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal eyebrow morphology, Clinodactyly of the 5th f... ORPHA:2496
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Short palm, Short metacarpal, Short phalanx of finger, Short thumb, Enlarged inter... OMIM:151200
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Thick eyebrow, Small hand, Bilateral single transv... ORPHA:444002
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Abnormality of the p... ORPHA:2511
Nicolaides-Baraitser Syndrome
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Sandal gap, Abnor... ORPHA:3051
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair, Alopecia, ... ORPHA:2850
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, White forelock, Synoph... OMIM:148820
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial hand polydacty... OMIM:277170
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Sparse hair, Alopecia, Broad thumb OMIM:617763
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Alopecia univer... OMIM:600705
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Short distal phalan... ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Delayed pubic bone ossification,... OMIM:184250
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Widow's peak, Finger syndactyly, Wooll... ORPHA:1520
Dermatoosteolysis, Kirghizian Type
Brachydactyly, Dystrophic toenail, Abnormality of the metaphysis, Dystrophic fingernails, Tarsal ... ORPHA:1657
Acrocephalopolydactyly
Brachydactyly, Limb undergrowth, Short long bone ORPHA:221054
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Brachydactyly, Narrow iliac wing, Genu varum, Metaphyseal irregularity, Short long bone, Short pa... OMIM:250420
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Sparse lateral e... OMIM:601224
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Thai Symphalangism Syndrome
Brachydactyly, Postaxial foot polydactyly, Proximal symphalangism of hands, Distal symphalangism ... OMIM:608028
Erythrokeratodermia Variabilis
Brachydactyly, Generalized hirsutism, Abnormal hair morphology, Tapered finger, Alopecia, Patchy ... ORPHA:317
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Short middle phalanx of finger ORPHA:1436
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplasti... ORPHA:93333
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Tapered finger, Short finger, Short toe OMIM:610680
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Flared metaphysis, Small ab... OMIM:187601
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Hammertoe, Camptodactyly, Short foot OMIM:275900
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Coffin-Siris Syndrome 2
Brachydactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Long eyelashes, Thick eyeb... OMIM:614607
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Talipes equinovarus, Short middle phalanx of finger OMIM:612626
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Radioulnar synostosis, Short toe, Ulnar deviation of finger ORPHA:921
Non-Distal Monosomy 10Q
Brachydactyly, Clinodactyly of the 5th finger, Overlapping fingers, Synophrys, Bilateral single t... ORPHA:1581
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Short metacarpal, Squared iliac bone... OMIM:618853
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Abnormality of epiphysis morphology, Dislocated radial head, ... ORPHA:1824
Keratoconus Posticus Circumscriptus
Brachydactyly, Clinodactyly of the 5th finger, Limited elbow extension and supination OMIM:244600
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Brachydactyly, Short proximal phalanx of finger, Aplasia/Hypoplasia of toe, Short middle phalanx ... OMIM:613627
Proteasome-Associated Autoinflammatory Syndrome 2
Brachydactyly, Clinodactyly OMIM:618048
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Single transverse palmar crease, Sandal gap, Thick eyebrow, Fine hair, Micromelia,... OMIM:614800
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micromelia, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Widow's peak, Pectoral muscle hypoplasia/aplasia, Postaxial hand pol... OMIM:136760
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Generalized hirsutism, Short metacarpal, Clinodactyly ... ORPHA:3121
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Short long bone, Multiple rows of eyelashes, Thick eyebrow, Aplasia/Hypoplasia inv... ORPHA:163654
Corneodermatoosseous Syndrome
Brachydactyly, Short distal phalanx of finger, Palmoplantar hyperkeratosis OMIM:122440
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short phalanx of finge... OMIM:157900
Jansen-De Vries Syndrome
Brachydactyly, Short foot, Small hand OMIM:617450
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Abnormality of epiphysis morphology, Clinodactyly of the 5th finge... ORPHA:3409
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Squared iliac bones, Limb undergrowth, Short long bone, Metaphyseal widening, Coar... OMIM:618961
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Short femoral neck, Flared iliac wing, Cone-shaped capital fe... OMIM:300232
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Advanced tarsal o... OMIM:269250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Short palm, Rhizo-meso-acromelic limb shortening, Short metacarpal, Short phalanx ... OMIM:611717
Al-Raqad Syndrome
Brachydactyly, Sandal gap OMIM:616459
Nicolaides-Baraitser Syndrome
Brachydactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Sparse scalp hair, Absent e... OMIM:601358
Temtamy Syndrome
Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Short toe ORPHA:1777
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:263540
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Red h... OMIM:614613
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short tibia, Sho... OMIM:258860
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Short metacarpal, Rhizomelia, Sparse eyebrow, Small epiphyses... ORPHA:263463
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Synophrys ORPHA:1390
Roifman Syndrome
Brachydactyly, Prominent eyelashes, Irregular capital femoral epiphysis, Delayed proximal femoral... ORPHA:353298
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Roifman Syndrome
Brachydactyly, Prominent eyelashes, Single transverse palmar crease, Short metacarpal, Clinodacty... OMIM:616651
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hypoplastic il... OMIM:223800
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micromelia, Ulnar deviation of the hand or of fingers of t... ORPHA:56304
Laurence-Moon Syndrome
Brachydactyly, Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly ORPHA:2377
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Short metacarpal OMIM:603233
Pycnodysostosis
Brachydactyly, Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic gird... OMIM:265800
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Highly arched eyebrow, Short distal phalanx of finger, Synophrys, ... ORPHA:1327
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Coffin-Siris Syndrome 7
Brachydactyly, Clinodactyly, Thick eyebrow, Sparse scalp hair OMIM:618027
Oculomaxillofacial Dysostosis
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Adducted thumb, Sp... ORPHA:1794
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis, Arachnodactyly, Sparse scalp hair ORPHA:2824
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Rocker bottom foot, Thick eyebrow, Tapered finger, Narrow palm, Smal... OMIM:615547
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Short distal phalanx of ... OMIM:616331
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Pseudoepiphyses of the metacarpals, Clinodactyly of the 5th finger, Cone-shaped ep... OMIM:210720
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Aplasia/Hypoplasia of the eyebrow, Hypo... OMIM:614091
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Avascular necros... ORPHA:559
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Shallow acetabular fossae, Clinodactyly of the 5th finger, Sq... OMIM:226960
Cardiospondylocarpofacial Syndrome
Brachydactyly, Short palm, Synostosis of carpal bones ORPHA:3238
Pfeiffer Syndrome
Brachydactyly, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Fin... ORPHA:710
Greenberg Dysplasia
Brachydactyly, Rhizomelia, Abnormal pelvis bone ossification, Micromelia ORPHA:1426
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Long eyelashes, Broad thumb, Camptodactyly, Mesomelia OMIM:618529
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Progressive Osseous Heteroplasia
Brachydactyly ORPHA:2762
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Hip joint hypermobility, Short proximal phalanx ... ORPHA:15
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Brachydactyly, 2-3 toe syndactyly, Cone-shaped epiphysis, Tapered finger, Broad hallux, Long fing... OMIM:618659
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Clinodactyly, Talipes equinovarus, Hypertrichosis, Camptodactyly OMIM:616354
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Short metacarpal, Sandal gap, Flared femoral meta... ORPHA:1427
Pseudopseudohypoparathyroidism
Brachydactyly, Short metacarpal, Short metatarsal OMIM:612463
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Split hand, Finger syndactyly, Brachydactyly ORPHA:2145
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Clinoda... OMIM:236500
Congenital Disorder Of Glycosylation, Type Iic
Brachydactyly, Widow's peak, Short foot OMIM:266265
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Rhizomelia, Short finger, Broad thumb, Metaphyseal widening, ... OMIM:612813
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly OMIM:610498
Pde4D Haploinsufficiency Syndrome
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... ORPHA:439822
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, Sandal gap OMIM:600991
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Rhizomelia, Supernumerary nipple, Acetabular spurs, Broad long bone diaphyses, Sho... OMIM:614376
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, Camptodactyly OMIM:613604
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... ORPHA:85167
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... OMIM:615994
Hall-Riggs Syndrome
Brachydactyly, Coarse hair, Abnormality of epiphysis morphology, Slow-growing hair, Thick hair, A... ORPHA:2107
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, Camptodactyly of finger, Long eyelashes ORPHA:2863
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Dislocated radial head, Short thumb, Limited elbow extension and supination, Synop... ORPHA:401935
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Short distal phalanx of finger, Synophrys, Genu valgum, Abnormal metacarpal morpho... ORPHA:1295
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Carpenter Syndrome 1
Brachydactyly, Genu varum, Duplication of the proximal phalanx of the hallux, Aplasia/Hypoplasia ... OMIM:201000
Mohr Syndrome
Brachydactyly, Metaphyseal irregularity, Partial duplication of the phalanges of the hallux, Post... OMIM:252100
Cono-Spondylar Dysplasia
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short 4th toe, Short humerus, ... ORPHA:420794
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ha... OMIM:619143
Acrofrontofacionasal Dysostosis
Brachydactyly, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the eyebrow, Micromelia... ORPHA:1784
Adams-Oliver Syndrome 6
Brachydactyly, Foot oligodactyly, Syndactyly OMIM:616589
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, T... ORPHA:2746
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Finger syndactyly, Highly arched eyebrow, Polydactyly, Synophrys ORPHA:313781
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Larsen Syndrome
Brachydactyly, Finger syndactyly, Abnormality of epiphysis morphology, Broad distal phalanx of fi... ORPHA:503
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Low posterior hairline, Abno... ORPHA:2701
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Sho... ORPHA:1005
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... OMIM:609945
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Thick eyebrow, Frontal balding, Cubitus valgus, High anterior hairline, Synophrys,... ORPHA:247768
Spondylometaphyseal Dysplasia, Sedaghatian Type
Brachydactyly, Widened greater sciatic notch, Metaphyseal irregularity, Cone-shaped metacarpal ep... OMIM:250220
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Preaxial ... OMIM:617866
Weill-Marchesani Syndrome
Brachydactyly, Short thumb ORPHA:3449
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Syn... OMIM:617895
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Brachydactyly, Finger joint hypermobility, Single transverse palmar crease, Scapular winging, 2-3... OMIM:618870
Okur-Chung Neurodevelopmental Syndrome
Brachydactyly, Clinodactyly, Highly arched eyebrow, Synophrys OMIM:617062
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... OMIM:602613
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Abnor... ORPHA:2655
Bent Bone Dysplasia Syndrome
Brachydactyly, Short clavicles, Hirsutism OMIM:614592
2Q37 Microdeletion Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Short palm, Short metacarpal, Clinodactyly of t... ORPHA:1001
Andersen Cardiodysrhythmic Periodic Paralysis
Brachydactyly, Toe syndactyly, Short palm, Short metacarpal, Clinodactyly of the 5th finger, Shor... OMIM:170390
16P12.1P12.3 Triplication Syndrome
Brachydactyly, 2-3 toe syndactyly, Thick eyebrow, Clinodactyly of the 4th finger, Tapered finger,... ORPHA:485405
2Q31.1 Microdeletion Syndrome
Brachydactyly, Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Finger syndactyly, ... ORPHA:251014
Cryptomicrotia-Brachydactyly Syndrome
Brachytelomesophalangy OMIM:123560
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Metaphyseal dysplasia OMIM:234250
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Short long bone, Fe... OMIM:615503
Laron Syndrome
Brachydactyly, Short toe, Abnormality of the elbow ORPHA:633
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Short toe ORPHA:3085
Specific Granule Deficiency 2
Brachydactyly, Sandal gap, Hirsutism OMIM:617475
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Single transverse palmar crease, Delayed ossification of carpal bones, Coxa valga,... OMIM:617425
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Osteolytic defects of the phalanges of the hand, Sparse hair, Slender long bone OMIM:601812
Frank-Ter Haar Syndrome
Brachydactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:137834
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Frontal hirsutism, Thick eyebrow, H... OMIM:618950
Temtamy Syndrome
Brachydactyly, Short 2nd toe, Highly arched eyebrow, Talipes equinovarus, Hip dislocation OMIM:218340
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Broad eyebrow, Proxim... ORPHA:94065
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Abnormal hair whorl, Short distal phalanx of finger OMIM:614261
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Synophrys, Talipes equinovarus ORPHA:3306
Trichorhinophalangeal Syndrome Type 2
Brachydactyly, Bilateral single transverse palmar creases, Cone-shaped epiphyses of the phalanges... ORPHA:502
Short Stature With Microcephaly And Distinctive Facies
Brachydactyly, Short digit, Sparse eyebrow, Short distal phalanx of finger, Proximal placement of... OMIM:615789
Rubinstein-Taybi Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Generalized hirsutism, Finger syndac... ORPHA:783
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Short greater sciatic notch, Femoral bowing, Micromelia,... ORPHA:1860
Fountain Syndrome
Brachydactyly, Thick eyebrow, Large hands, Short distal phalanx of finger, Synophrys, Metaphyseal... ORPHA:3219
Atelosteogenesis, Type I
Brachydactyly, Clubbing, Short metacarpal, Rhizomelia, Tibial bowing, Club-shaped proximal femur,... OMIM:108720
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Sandal gap, Clinodactyly of t... OMIM:617061
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Postaxial hand polydactyly, Sh... OMIM:615630
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Abnormal hair pattern, Broad thumb, Bilateral single transverse palmar creases, La... ORPHA:1770
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Lujan-Fryns Syndrome
Brachydactyly, Camptodactyly of finger, Arachnodactyly ORPHA:776
Acrofacial Dysostosis, Catania Type
Brachydactyly, Finger syndactyly, Short palm, Coarse hair, Clinodactyly of the 5th finger, Abnorm... ORPHA:1786
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Brachydactyly, Clinodactyly, Short femoral neck, Short metacarpal, Rhizomelia, Cone-shaped epiphy... OMIM:614813
Aarskog-Scott Syndrome
Brachydactyly, Clinodactyly, Widow's peak, Single transverse palmar crease, Short palm, Broad pal... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Sandal gap, Short foot, Small hand OMIM:300354
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Rhizomelia, Mesomelia, Broad thumb ORPHA:171866
Lymphedema-Hypoparathyroidism Syndrome
Brachydactyly, Increased carrying angle, Hypertrichosis OMIM:247410
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Hypoplastic ischia, Steep acetabular roof, Incomplete ossifica... ORPHA:313855
Feingold Syndrome
Brachydactyly, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Hallu... ORPHA:1305
Tonne-Kalscheuer Syndrome
Brachydactyly, Fine hair, Broad thumb OMIM:300978
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5t... OMIM:618914
Adams-Oliver Syndrome
Brachydactyly, Finger syndactyly, Alopecia, Sparse hair, Short distal phalanx of finger, Absent h... ORPHA:974
Cleidocranial Dysplasia
Brachydactyly, Abnormal thumb morphology, Hypoplastic inferior ilia, Abnormality of pelvic girdle... ORPHA:1452
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Abnormal hair pattern, Highly arched eyebrow, Camptodactyly of finger, Bilateral s... ORPHA:2083
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Epiphyseal stippling, Short distal phalanx of finger ORPHA:1914
Alg6-Cdg
Brachydactyly, Shortening of all distal phalanges of the fingers ORPHA:79320
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Short distal phalanx of finger, Generalized hirsutism ORPHA:1563
Smith-Magenis Syndrome
Brachydactyly, Short palm, Abnormality of the forearm, Broad palm, Synophrys OMIM:182290
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Short metacarpal, Short finger, Short toe, Short metatarsal OMIM:103580
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Short femoral neck, Clinodact... OMIM:614701
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Coxa valga, Short distal phalanx of finger ORPHA:2163
Roberts Syndrome
Brachydactyly, Synostosis of carpal bones, Bowing of the long bones, Finger syndactyly, Phocomeli... ORPHA:3103
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal metacarpal morphology ORPHA:93262
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology,... ORPHA:1458
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachydactyly, Generalized hirsutism, Symphalangism affecting the phalanges of the hand, Clinodac... ORPHA:1292
Moebius Syndrome
Brachydactyly, Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Clino... ORPHA:570
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Short metacarpal, Short metatarsal OMIM:617157
Craniosynostosis 2
Brachydactyly, Triphalangeal thumb OMIM:604757
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Omphalocele, Spi... ORPHA:63260
Chitayat Syndrome
Brachydactyly, Hallux valgus OMIM:617180
Endocrine-Cerebroosteodysplasia
Brachydactyly, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Ulnar deviation of the ... OMIM:612651
Lethal Kniest-Like Dysplasia
Brachydactyly, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Broad long bones, Talipes... ORPHA:2347
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachydactyly, Toe syndactyly, Single transverse palmar crease, Long eyelashes, Clinodactyly of t... OMIM:610759
Coffin-Siris Syndrome 6
Brachydactyly, Clinodactyly OMIM:617808
Rhyns Syndrome
Brachydactyly, Radial bowing, Short femoral neck OMIM:602152
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly OMIM:618265
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar keratoderma, Short palm, Abnormality of the hand, Abnormal metacarpal... ORPHA:3194
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Anencephaly, Omphalocele, Cleft palate, Hydrocephalus, ... OMIM:313850
Oculodentodigital Dysplasia
Brachydactyly, Clinodactyly, Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Brittle... ORPHA:2710
Aredyld Syndrome
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abnormality of pelvic girdle bone morphology, S... ORPHA:1133
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly ORPHA:436245
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Brachydactyly, Short metacarpal, Sparse eyebrow, Metaphyseal chondrodysplasia, Short distal phala... OMIM:250410
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Short fourth metatarsal, Patellar hypoplasia ORPHA:464288
Distal Monosomy 10Q
Brachydactyly, Clinodactyly, Widow's peak, Single transverse palmar crease, Sandal gap, Clinodact... ORPHA:96148
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Broad thumb OMIM:614526
Thanatophoric Dysplasia Type 2
Micromelia, Abnormality of the metaphysis, Brachydactyly ORPHA:93274
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Broad ha... OMIM:618727
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Cone-shaped epiphysis, Pseudoepiphyses, Tarsal synostosis, Shor... OMIM:157800
Gorlin Syndrome
Brachydactyly, Arachnodactyly, Palmar pits ORPHA:377
Kniest-Like Dysplasia, Lethal
Brachydactyly, Metaphyseal irregularity, Rhizomelia, Flared metaphysis, Dumbbell-shaped long bone... OMIM:245190
Atelosteogenesis Type I
Brachydactyly, Rhizomelia, Abnormality of fibula morphology, Abnormal ossification involving the ... ORPHA:1190
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Elbow dislocation, Postaxial hand polydactyly, Low... ORPHA:2916
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap ORPHA:2180
Radio-Tartaglia Syndrome
Brachydactyly, Long eyebrows, Long eyelashes, Thick eyebrow, Tapered finger, Highly arched eyebro... OMIM:619312
Monosomy 18P
Brachydactyly, Low posterior hairline, Alopecia ORPHA:1598
Cranioectodermal Dysplasia 3
Brachydactyly, Sandal gap, Fine hair, Sparse hair, Postaxial polydactyly, Short nail, Syndactyly OMIM:614099
Spondyloepimetaphyseal Dysplasia, Krakow Type
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, 2-3 toe syndactyly, Rhizomelia, Elb... OMIM:618162
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Short phalanx of finger, Short metacarpal, Brachydactyly OMIM:600092
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, Patchy alopecia, Thick eyebrow, Short distal phalanx of finger, Cubitus valgus, Ta... OMIM:300534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Brachydactyly, Metaphyseal irregularity, Thick eyebrow, Tapered finger, Congenital hip dislocatio... OMIM:616007
Hypoglossia-Hypodactyly Syndrome
Brachydactyly, Finger syndactyly, Adactyly, Aplasia/Hypoplasia of fingers, Short distal phalanx o... ORPHA:989
Saethre-Chotzen Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal h... ORPHA:794
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Short metacarpal, Absent eyelashes, Metaphyseal chondrodysplasia, Absent eyebrow, ... ORPHA:166035
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Brachydactyly, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, Aplasia/Hypop... ORPHA:2637
Rin2 Syndrome
Brachydactyly, Hirsutism, Sparse scalp hair ORPHA:217335
Grange Syndrome
Brachydactyly, Syndactyly, Finger clinodactyly OMIM:602531
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Single transverse palmar crease, Bro... OMIM:218330
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Brachydactyly, Clinodactyly, 4-5 toe syndactyly, Rocker bottom foot, Clinodactyly of the 5th fing... ORPHA:488642
Adams-Oliver Syndrome 5
Brachydactyly, Dystrophic toenail, Syndactyly OMIM:616028
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome