Gene: Furin MGI:97513

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Gene Summary

Name:
furin (paired basic amino acid cleaving enzyme)
Synonyms:
Fur,  PACE,  SPC1,  Pcsk3,  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 1.23×10-11
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 3.43×10-08

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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
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
N/A heterozygote Not available
N/A heterozygote Not available
N/A heterozygote 100% (1 of 1)
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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology ORPHA:3314
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones ORPHA:1078
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Cooks Syndrome
Broad thumb, Split hand, Dystrophic toenail, Dystrophic fingernails, Triphalangeal thumb, Brachyd... ORPHA:1487
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of the wrist, Bra... OMIM:618435
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... ORPHA:3237
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Craniosynostosis 3
Low anterior hairline, Brachydactyly, Hallux valgus, Single transverse palmar crease OMIM:615314
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Symphalangism, Distal
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... OMIM:185700
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Short metacarpal, Talipes equinovarus... OMIM:226900
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Heart-Hand Syndrome Type 3
Short middle phalanx of finger, Short toe, Brachydactyly, Abnormality of the metacarpal bones ORPHA:1342
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synophrys OMIM:612001
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Contractures of the interphalangeal joint of ... ORPHA:1927
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1795
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Hypochondroplasia
Limited elbow extension, Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormali... OMIM:146000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
2q37 monosomy
Brachydactyly DECIPHER:44
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, Flared metaphys... OMIM:607095
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B... OMIM:609052
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Short 5th metacarpal, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brac... OMIM:106990
Tetrasomy X
Hip dysplasia, Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis ORPHA:9
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Toe syndactyly, Short thumb ORPHA:391646
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Toe syndactyly, Nail dystrophy, Brachydactyly OMIM:124480
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Tarsal osteovalgus, Camptodactyly, Adducted thumb, Brachydactyly OMIM:614257
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Synophrys, Thick eyeb... ORPHA:1278
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Short distal phalanx of the thumb, ... ORPHA:79445
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, U... ORPHA:93387
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Abnormal diaphy... ORPHA:1240
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Brachydac... OMIM:193530
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short toe, Short finger, Short metacarpal, Pili canaliculi, Unc... OMIM:191482
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Bilateral single transverse... ORPHA:968
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Brachydactyly, Mesomelia ORPHA:1277
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metatarsal, Short metacarpal OMIM:113400
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Hypochondroplasia
Short toe, Abnormality of the elbow, Bowing of the long bones, Genu varum, Abnormality of femur m... ORPHA:429
Isolated Brachycephaly
Metacarpal synostosis, Brachydactyly ORPHA:35099
Brachydactyly, Type E2
Brachydactyly, Short metatarsal, Short metacarpal OMIM:613382
20Q11.2 Microdeletion Syndrome
Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly ORPHA:444051
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... OMIM:228900
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Finger symphalangism, Carpal synostosis, Talipes equi... OMIM:610017
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Acromicric Dysplasia
Abnormal eyebrow morphology, Abnormality of femur morphology, Abnormality of epiphysis morphology... ORPHA:969
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... ORPHA:2370
Achondroplasia
Limited elbow extension, Trident hand, Rhizomelia, Bowing of the legs, Flared metaphysis, Genu va... OMIM:100800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... OMIM:609616
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Limb undergrowth, Micromelia OMIM:269870
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Brachydactyly OMIM:618392
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Short 5th metacarpal, Uncombable hair, Brachydactyly, Abnormality of the hand ORPHA:1264
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly OMIM:301026
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Lower limb undergrowth, Hirsutism, Bowing of the legs, Brachydactyly OMIM:612847
Charlie M Syndrome
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... ORPHA:1406
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Synophrys, Clinodactyly, Thick eyebrow, Brachydactyly, Tapered finger OMIM:617061
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Abnormal femoral head morphology, Abnormality o... ORPHA:2619
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Multiple Synostoses Syndrome 4
Brachydactyly, Tarsal synostosis, Overlapping toe OMIM:617898
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Sillence Syndrome
Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Abnormal morphol... ORPHA:3168
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Metatropic Dysplasia
Long coccyx, Flared femoral metaphysis, Abnormal metaphyseal vascular invasion, Short finger, Dum... OMIM:156530
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Multiple Epiphyseal Dysplasia, Beighton Type
Hip dysplasia, Genu valgum, Abnormalities of the metaphyses of the hand, Abnormal hip joint morph... ORPHA:166011
Muenke Syndrome
Low anterior hairline, Broad thumb, Short middle phalanx of finger, Capitate-hamate fusion, Thimb... OMIM:602849
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Anauxetic Dysplasia 2
Cubitus valgus, Hypoplasia of the femoral head, Sparse hair, Metaphyseal dysplasia, Coxa vara, Hy... OMIM:617396
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short middle phalanx of finger, Shor... OMIM:211920
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
Brachydactyly, Type B1
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... OMIM:113000
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Short metatarsal, Short phalanx of finger, Sparse hair, Short finger, Short metacarpa... OMIM:190351
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Spondyloepiphyseal Dysplasia, Nishimura Type
Small hand, Brachydactyly, Cone-shaped epiphysis, Delayed epiphyseal ossification OMIM:618618
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Horizontal eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hypertrichosis, Clin... OMIM:618381
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thu... OMIM:605282
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Specific Granule Deficiency 2
Hirsutism, Brachydactyly, Sandal gap OMIM:617475
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia OMIM:122900
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Short distal phalanx of finger ORPHA:1547
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short foot, Short metacarpal, Brachydactyly OMIM:614078
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... OMIM:300590
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Rhizomelic Syndrome, Urbach Type
Preaxial hand polydactyly, Abnormal hair quantity, Abnormality of epiphysis morphology, Rhizomeli... ORPHA:3098
Leri Pleonosteosis
Cubitus valgus, Camptodactyly of finger, Broad thumb, Abnormality of finger, Elbow dislocation, A... ORPHA:2900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Brachydactyly, Hypoplastic iliac wing, Short distal phalanx of finger ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 59
Highly arched eyebrow, Brachydactyly, Short palm, Short foot OMIM:618522
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... OMIM:251450
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Shor... OMIM:600325
Temtamy Preaxial Brachydactyly Syndrome
Short hallux, Tarsal synostosis, Complete duplication of proximal phalanx of the thumb, Partial d... ORPHA:363417
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of tibia morphology, Abnormal eyebrow morphology, Abnormality of femur m... ORPHA:2496
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Short phalanx of finger, Widow's peak, Clinodactyly, Thick eyebrow, Small hand, Broad finger, Bra... OMIM:614684
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Bowing of the long bones, Brachydactyly ORPHA:40
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Brachydactyly, Short thumb OMIM:165800
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Premature graying of hair, Synophrys, Carpal synostosi... OMIM:148820
Hand-Foot-Genital Syndrome
Short hallux, Small thenar eminence, Hallux varus, Delayed ossification of carpal bones, Short 1s... OMIM:140000
Alopecia-Intellectual Disability Syndrome
Split hand, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Bra... ORPHA:2850
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Cone-shaped epiphysis, Bilate... ORPHA:2511
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Broad thumb, Sparse hair, Alopecia OMIM:617763
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Broad distal phalanx of finger, Sparse hair, Abnormality of finger, Abnorm... ORPHA:3051
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Alopecia universalis, Alopecia, Short metacarpal, Brachydactyly, O... OMIM:600705
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Metaphyseal irregularit... OMIM:184250
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Micro... OMIM:617866
Cranioectodermal Dysplasia
Sparse hair, Finger syndactyly, Rhizomelia, Short distal phalanx of finger, Abnormal diaphysis mo... ORPHA:1515
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the metaphysis, Abnormal diaphysis morphology, Dystrophic toena... ORPHA:1657
Acrocephalopolydactyly
Short long bone, Brachydactyly, Limb undergrowth ORPHA:221054
Craniofrontonasal Dysplasia
Camptodactyly of finger, Hand polydactyly, Finger syndactyly, Widow's peak, Broad hallux phalanx,... ORPHA:1520
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Delayed ossification of carpal bones, Irregular epiph... OMIM:184260
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad palm, Broad phalanx, Carpal bo... OMIM:250420
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Brachydactyly ORPHA:1436
Potocki-Shaffer Syndrome
Cutaneous syndactyly between fingers 2 and 5, Sparse lateral eyebrow, Single transverse palmar cr... OMIM:601224
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Alopecia, Generalized hirsutism, Br... ORPHA:317
Thai Symphalangism Syndrome
Postaxial hand polydactyly, Distal symphalangism of hands, Short finger, Proximal symphalangism o... OMIM:608028
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Small abnormally formed ... OMIM:187601
Spastic Paraplegia 20, Autosomal Recessive
Camptodactyly, Clinodactyly, Short foot, Hammertoe, Brachydactyly OMIM:275900
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Abruzzo-Erickson Syndrome
Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Short toe, Brachydactyly ORPHA:921
Lowry-Wood Syndrome
Dislocated radial head, Elbow dislocation, Abnormality of epiphysis morphology, Irregular epiphys... ORPHA:1824
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short finger, Brachydactyly, Tapered finger, Short toe OMIM:610680
Non-Distal Monosomy 10Q
Overlapping fingers, Bilateral single transverse palmar creases, Synophrys, Clinodactyly of the 5... ORPHA:1581
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Short middle phalanx of finger, Brachydactyly OMIM:612626
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly OMIM:244600
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Widow's peak, Camptodactyly, Radi... OMIM:136760
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Thick eyebrow, Syndactyly, Brachydactyly, Single transverse palmar crease, Fine hair,... OMIM:614800
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Trident hand, Short middle phalanx of finger, ... OMIM:618853
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyseal widening, B... ORPHA:440354
Coffin-Siris Syndrome 2
Low anterior hairline, Aplasia/Hypoplasia of the distal phalanges of the hand, Long eyelashes, Sp... OMIM:614607
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Short proximal phalanx of finger, Short metatarsal, Short middle phalanx of finger, Aplasia/Hypop... OMIM:613627
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Limb undergrowth, Coarse metaphyseal trabecularization, Short long bone, Met... OMIM:618961
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Abnormal metatarsal morphology, Hypoplastic pelvis, Curly hair, Broad long bones,... ORPHA:163654
Schneckenbecken Dysplasia
Advanced tarsal ossification, Metaphyseal irregularity, Hypoplastic scapulae, Dumbbell-shaped lon... OMIM:269250
Al-Raqad Syndrome
Brachydactyly, Sandal gap OMIM:616459
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Low anterior hairline, Flared iliac wing, Broad palm, Short finger, Metaphyseal cupping of metaca... OMIM:300232
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar hyperkeratosis, Short distal phalanx of finger OMIM:122440
Ruvalcaba Syndrome
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Abnormality of the elb... ORPHA:3121
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Flexion contracture... ORPHA:3409
Jansen-De Vries Syndrome
Small hand, Brachydactyly, Short foot OMIM:617450
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Synophrys, Thick eyebrow, Syndactyly, Brachydactyly OMIM:614701
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal c... OMIM:611717
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Temtamy Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Short toe ORPHA:1777
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Aplasia/Hypoplasia involving the metacarpal b... OMIM:157900
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Genu valgum, Cubitus valgus, Sparse eyebrow, Rhizomelia, Abnormality of th... ORPHA:263463
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Iliac crest serration, Flat acetabular r... OMIM:223800
Nicolaides-Baraitser Syndrome
Low anterior hairline, Short metatarsal, Short phalanx of finger, Absent eyebrow, Sandal gap, Spa... OMIM:601358
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Broad femoral head, Bilate... ORPHA:353298
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Red hair, Cone-shaped epiphysis, Fair hair, Short meta... OMIM:614613
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Poland Syndrome
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly OMIM:173800
Roifman Syndrome
Prominent eyelashes, Short metacarpal, Brachydactyly, Short toe, Short digit, Clinodactyly of the... OMIM:616651
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Clinodactyly of the 5th finger, Brachydactyly, Synophrys ORPHA:1390
Laurence-Moon Syndrome
Hand polydactyly, Brachydactyly, Bilateral single transverse palmar creases, Finger syndactyly ORPHA:2377
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Highly arched eyebrow, Scapular winging, Camptodactyly of finger, Toe syndactyly,... ORPHA:1327
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic girdle bone morphol... OMIM:265800
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormal eyelash morphology, Sparse or absent eyelashes, Abnormality of ... ORPHA:1794
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Palmoplantar keratoderma, Cone-shaped epiphysis, Sparse scalp hair, Arachnodactyly, Brachydactyly ORPHA:2824
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Camptodactyly, Single transverse palmar crease, Clinodactyly, Tapered finger, Brachydactyly OMIM:300998
Coffin-Siris Syndrome 7
Sparse scalp hair, Thick eyebrow, Brachydactyly, Clinodactyly OMIM:618027
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Schaaf-Yang Syndrome
Rocker bottom foot, Camptodactyly, Narrow palm, Clinodactyly, Thick eyebrow, Small hand, Short fo... OMIM:615547
Lowry-Wood Syndrome
Limited elbow extension, Squared iliac bones, Irregular epiphyses, Clinodactyly of the 5th finger... OMIM:226960
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Short metacarpal OMIM:603233
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, ... OMIM:614091
Greenberg Dysplasia
Rhizomelia, Brachydactyly, Abnormal pelvis bone ossification, Micromelia ORPHA:1426
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphalangism affectin... ORPHA:710
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Mesomelia, Short distal phalanx of finger, Partial duplication of the phalanx of han... OMIM:616331
Marinesco-Sjögren Syndrome
Hip dysplasia, Abnormality of finger, Abnormality of the metacarpal bones, Avascular necrosis of ... ORPHA:559
Cardiospondylocarpofacial Syndrome
Brachydactyly, Short palm, Synostosis of carpal bones ORPHA:3238
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... OMIM:210720
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Brachydactyly, Cutaneous syndactyly, Talipes equinovarus, Clinodactyly of the... OMIM:236500
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Tibial metaphyseal irregularity, Toe clinodactyly... ORPHA:457395
Progressive Osseous Heteroplasia
Brachydactyly ORPHA:2762
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Thick eyebrow, Small hand, Short foot, Clinodactyly o... ORPHA:444002
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Long eyelashes, Mesomelia, Clinodactyly, Brachydactyly OMIM:618529
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Rhizomelia, Short finger, Irregular epiphyses, Mesomelia, Metaphyseal widening, Brac... OMIM:612813
Spinocerebellar Ataxia, Autosomal Recessive 20
Camptodactyly, Clinodactyly, Hypertrichosis, Talipes equinovarus, Brachydactyly OMIM:616354
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Micromelia ORPHA:2145
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, 2-3 toe syndactyly, Cone-shaped epiphysis, Broad hallux, Short toe, Brachydactyly, ... OMIM:618659
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly OMIM:610498
Pseudopseudohypoparathyroidism
Brachydactyly, Short metatarsal, Short metacarpal OMIM:612463
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Trident hand, Short middle phalanx of ... ORPHA:15
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, Sandal gap OMIM:600991
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Brachydactyly, Short foot OMIM:266265
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Clinodactyly, Camptodactyly, Brachydactyly OMIM:613604
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short metatarsal, Short phalanx of finger, Short middle phalanx of finger... ORPHA:439822
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Short foot, Metaphyseal widening, Brachydactyly OMIM:614376
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Synophrys, Limited elbow extension and supination, Short thumb, Brachydac... ORPHA:401935
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Brachydactyly, Long eyelashes ORPHA:2863
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Synophrys, Short distal phalanx of finger, Abnormality of the metacarpal bones, Brac... ORPHA:1295
Hall-Riggs Syndrome
Thick hair, Abnormality of epiphysis morphology, Coarse hair, Limb undergrowth, Slow-growing hair... ORPHA:2107
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Short humerus, Short 4th toe, Short lower lim... ORPHA:420794
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Broad thumb, Abnormality of epiphysis morphology, Short distal phalanx o... ORPHA:1784
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxial hand pol... OMIM:252100
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyly, Short metacarpal, Cl... OMIM:170390
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormality of the elbow, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Low posterior hai... ORPHA:2701
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Opsismodysplasia
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Hy... ORPHA:2746
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Rhiz... OMIM:108720
Carpenter Syndrome 1
Genu valgum, Aplasia/Hypoplasia of the middle phalanges of the hand, Postaxial hand polydactyly, ... OMIM:201000
20P13 Microdeletion Syndrome
Highly arched eyebrow, Finger syndactyly, Polydactyly, Synophrys, Clinodactyly, Brachydactyly ORPHA:313781
Cardioacrofacial Dysplasia 2
Genu valgum, Postaxial hand polydactyly, Limb undergrowth, Postaxial foot polydactyly, Clubbing, ... OMIM:619143
Larsen Syndrome
Broad distal phalanx of finger, Broad thumb, Accessory carpal bones, Abnormality of epiphysis mor... ORPHA:503
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Hirsutism, Thick eyebrow, Abnormal hip bone morphology, Abnormal shoul... ORPHA:363705
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnor... ORPHA:1005
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, High anterior hairline, Hirsutism, Synophrys, Frontal balding, Facial hirsutism, ... ORPHA:247768
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Bent Bone Dysplasia Syndrome
Hirsutism, Brachydactyly, Short clavicles OMIM:614592
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... OMIM:617895
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Abnormality of th... ORPHA:2655
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metatarsal, Sparse hair, Breast hypoplasia, Hypoplastic pelvis, Cone-shaped epiphysis, Shor... OMIM:614813
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Sparse hair, Hypoplastic pelvis, Prominent palmar flexion creases, Rhiz... OMIM:602613
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Short toe ORPHA:3085
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar crea... ORPHA:1001
Laron Syndrome
Abnormality of the elbow, Brachydactyly, Short toe ORPHA:633
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabular spurs, Brach... OMIM:615503
Cryptomicrotia-Brachydactyly Syndrome
Brachytelomesophalangy OMIM:123560
Premature Aging Syndrome, Penttinen Type
Slender long bone, Brachydactyly, Sparse hair, Osteolytic defects of the phalanges of the hand OMIM:601812
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Clinodactyly, Brachydactyly, Synophrys OMIM:617062
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Brachydactyly OMIM:234250
Weill-Marchesani Syndrome
Brachydactyly, Short thumb ORPHA:3449
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Scapular winging, Finger joint hypermobility, 2-3 toe synda... OMIM:618870
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Brachydactyly, Abnormal hair whorl OMIM:614261
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... ORPHA:1860
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Synophrys, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3306
Frank-Ter Haar Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Brachydactyly, Abnormality of the metaca... ORPHA:137834
Short Stature With Microcephaly And Distinctive Facies
Short distal phalanx of finger, Syndactyly, Sparse and thin eyebrow, Talipes equinovarus, Short d... OMIM:615789
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Hirsutism, Hypoplastic ischia, Bowing of... ORPHA:313855
Feingold Syndrome
Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brachydactyly, Hallu... ORPHA:1305
Fountain Syndrome
Large hands, Synophrys, Short distal phalanx of finger, Abnormality of the metacarpal bones, Coar... ORPHA:3219
Lujan-Fryns Syndrome
Camptodactyly of finger, Arachnodactyly, Brachydactyly ORPHA:776
Trichorhinophalangeal Syndrome Type 2
Hip dysplasia, Genu valgum, Bilateral single transverse palmar creases, Sparse scalp hair, Avascu... ORPHA:502
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Brachydactyly, Broad thumb, Mesomelia ORPHA:171866
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Large hands, Bilateral single transverse palmar creases, Abnormal hair pattern, Brac... ORPHA:1770
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Delayed ossification of carpal bones, Metaphyseal dysplasia, Narrow great... OMIM:617425
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Short long bone, Cone-shaped epiphyses of the phalanges ... OMIM:615630
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Lymphedema-Hypoparathyroidism Syndrome
Brachydactyly, Hypertrichosis, Increased carrying angle OMIM:247410
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Coarse hair, Bilateral single transverse palmar creases, Small hand, Abnormal ... ORPHA:1786
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Large hands, Short distal phalanx of finger, Patchy alopecia, Short foot, Talipes equinovarus, Br... OMIM:300534
Aarskog-Scott Syndrome
Short 5th finger, Broad palm, Widow's peak, Radial deviation of finger, Clinodactyly, Syndactyly,... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Brachydactyly, Short foot, Sandal gap OMIM:300354
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Polydactyly, Hirsutism, Synophrys, Thick eyebrow, Clinodactyly, Frontal hi... OMIM:618950
Tonne-Kalscheuer Syndrome
Brachydactyly, Broad thumb, Fine hair OMIM:300978
Cleidocranial Dysplasia
Genu valgum, Abnormal thumb morphology, Abnormality of epiphysis morphology, Hypoplastic inferior... ORPHA:1452
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Clinodactyly of the 4th finger, 2-3 toe syndactyly, Thick eyebrow, Prominent fi... ORPHA:485405
Rubinstein-Taybi Syndrome
Hip dysplasia, Highly arched eyebrow, Broad thumb, Finger syndactyly, Broad hallux phalanx, Clubb... ORPHA:783
Adams-Oliver Syndrome
Absent hand, Sparse hair, Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Sho... ORPHA:974
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, High anterior hairline, Broad eyebrow, Clinodactyly, Small hand, Proxi... ORPHA:94065
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Camptodactyly of finger, Bilateral single transverse palmar creases, Abnor... ORPHA:2083
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Brachydactyly, Short distal phalanx of finger ORPHA:1563
Temtamy Syndrome
Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Hip dislocation, Brachydactyly OMIM:218340
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu valgum, Abnormality of epiphysis morphology, Coxa vara, Flared metaphysis, Aplastic clavicle... ORPHA:93314
Smith-Magenis Syndrome
Broad palm, Abnormality of the forearm, Synophrys, Brachydactyly, Short palm OMIM:182290
Holoprosencephaly-Craniosynostosis Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Coxa valga, Short distal phalanx of finger ORPHA:2163
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, 2-3 toe syndactyly, Joint contracture of the 5th finger, Sandal gap, Joint... OMIM:618914
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
High anterior hairline, Short distal phalanx of toe, Symphalangism affecting the phalanges of the... ORPHA:1292
Pseudohypoparathyroidism, Type Ia
Short toe, Short metatarsal, Short finger, Short metacarpal, Brachydactyly OMIM:103580
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormality of the metacarpal bones ORPHA:93262
Moebius Syndrome
Absent hand, Finger syndactyly, Aplasia of the pectoralis major muscle, Breast aplasia, Aplasia/H... ORPHA:570
Roberts Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Sparse hair, Radioulnar synostosis, Synostosi... ORPHA:3103
Codas Syndrome
Congenital hip dislocation, Abnormality of epiphysis morphology, Short metacarpal, Brachydactyly,... ORPHA:1458
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of the ischium, Broad long bones, Hypoplastic i... ORPHA:2347
Chitayat Syndrome
Brachydactyly, Hallux valgus OMIM:617180
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Short metatarsal, Short metacarpal OMIM:617157
Pycnodysostosis
Abnormality of epiphysis morphology, Short distal phalanx of finger, Abnormal pelvis bone ossific... ORPHA:763
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal chondrodysplasia, Sparse eyebrow, Sparse hair, High anterior hairline, Short distal p... OMIM:250410
Craniosynostosis 2
Triphalangeal thumb, Brachydactyly OMIM:604757
Rhyns Syndrome
Radial bowing, Short femoral neck, Brachydactyly OMIM:602152
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger ORPHA:1914
Oculodentodigital Dysplasia
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Camptodactyly of finger, Pr... ORPHA:2710
Endocrine-Cerebroosteodysplasia
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand... OMIM:612651
Aredyld Syndrome
Sparse body hair, Abnormality of pelvic girdle bone morphology, Brachydactyly, Aplasia/Hypoplasia... ORPHA:1133
2Q31.1 Microdeletion Syndrome
Low anterior hairline, Camptodactyly of finger, Abnormality of tibia morphology, Toe syndactyly, ... ORPHA:251014
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly OMIM:618265
Distal Monosomy 10Q
Hip dysplasia, Scapular winging, Short metatarsal, Widow's peak, Sandal gap, Brachydactyly, Clino... ORPHA:96148
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, Anal atresia, My... ORPHA:63260
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Patellar hypoplasia, Short fourth metatarsal ORPHA:464288
Thanatophoric Dysplasia Type 2
Abnormality of the metaphysis, Brachydactyly, Micromelia ORPHA:93274
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synostosis, Brachyd... OMIM:157800
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly ORPHA:436245
Gorlin Syndrome
Palmar pits, Arachnodactyly, Brachydactyly ORPHA:377
Coffin-Siris Syndrome 6
Clinodactyly, Brachydactyly OMIM:617808
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap ORPHA:2180
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Low anterior hairline, Highly arched eyebrow, Short 5th finger, Toe syndactyly, Thick hair, Hirsu... OMIM:610759
Monosomy 18P
Low posterior hairline, Brachydactyly, Alopecia ORPHA:1598
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
3-4 toe syndactyly, Scarring alopecia of scalp, Sandal gap, Clinodactyly, Broad hallux, Brachydac... OMIM:618727
Corneodermatoosseous Syndrome
Abnormality of finger, Palmoplantar keratoderma, Abnormality of the metacarpal bones, Abnormality... ORPHA:3194
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Upper limb phocomelia, Finger syndactyly, Split hand, Sh... ORPHA:989
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Postaxial hand polydactyly, Elbow dislocation, Clinodactyly of the 5th finger, Low posterior hair... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly, Mesomelia, Elbow f... OMIM:618162
Saethre-Chotzen Syndrome
Low anterior hairline, Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases... ORPHA:794
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Short diaphyses, Rhizomelia, Hypoplastic ilia, Dumbbell-shaped long bon... OMIM:245190
Radio-Tartaglia Syndrome
Highly arched eyebrow, Low anterior hairline, High anterior hairline, Hirsutism, Long eyelashes, ... OMIM:619312
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Genu valgum, Congenital hip dislocation, Metaphyseal irregularity, Thick eyebrow, Brachydactyly, ... OMIM:616007
Cranioectodermal Dysplasia 3
Sparse hair, Postaxial polydactyly, Sandal gap, Syndactyly, Short nail, Brachydactyly, Fine hair OMIM:614099
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Broad thumb OMIM:614526
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of epiphysis morphology, Micromelia, Hypoplastic iliac wing, Coxa vara, Aplasia/Hypop... ORPHA:2637
Grange Syndrome
Syndactyly, Brachydactyly, Finger clinodactyly OMIM:602531
Cranioectodermal Dysplasia 1
Short toe, Triphalangeal hallux, Sparse hair, Broad toe, Rhizomelia, Broad distal phalanges of al... OMIM:218330
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Tarsal synostosis, Camptodactyly, Hirsutism, Elbow flexion contracture, Femoral bowing, Narrow pe... ORPHA:95699
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Broad pa... OMIM:101800
Osteoglosphonic Dysplasia
Rhizomelia, Brachydactyly ORPHA:2645
Rin2 Syndrome
Sparse scalp hair, Hirsutism, Brachydactyly ORPHA:217335
Craniofrontonasal Syndrome
Toe syndactyly, Breast hypoplasia, Widow's peak, Down-sloping shoulders, Broad hallux, Hemihypotr... OMIM:304110
Trisomy 9P
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases ORPHA:236
Bardet-Biedl Syndrome 1
Postaxial hand polydactyly, Hirsutism, Radial deviation of finger, Syndactyly, Foot polydactyly, ... OMIM:209900
Fibrochondrogenesis
Camptodactyly of finger, Hypoplastic scapul