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
brachydactyly Furintm1b(EUCOMM)Wtsi HET Early adult 5.05×10-08
preweaning lethality, complete penetrance Furintm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal vibrissa morphology Furintm1b(EUCOMM)Wtsi HET Early adult 9.94×10-12
embryonic lethality prior to tooth bud stage Furintm1b(EUCOMM)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

12 Images

Echo

M-Mode Images

64 Images

Adult LacZ

LacZ Images Wholemount

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images 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
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi... OMIM:112800
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... OMIM:618435
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Cooks Syndrome
Dystrophic fingernails, Triphalangeal thumb, Dystrophic toenail, Split hand, Broad thumb, Brachyd... ORPHA:1487
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... OMIM:186570
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Brachydactyly, Di... OMIM:185700
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Short metacarpal, Hypoplasia of the femoral head, Epiphyseal dysp... OMIM:226900
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly ORPHA:391646
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synophrys OMIM:612001
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Low posterior hairline, Camptod... ORPHA:1927
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal OMIM:604381
2q37 monosomy
Brachydactyly DECIPHER:44
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Tetrasomy X
Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia ORPHA:9
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Chromosome 20Q11-Q12 Deletion Syndrome
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly OMIM:614257
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Nail dystrophy, Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal... OMIM:124480
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broad thumb, Thick eyebrow, Brac... ORPHA:1278
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Brachydactyly, Short distal phalanx of the 3rd finger, Sh... ORPHA:79445
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... OMIM:193530
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Finger clinodactyly, Camptodactyly ORPHA:444051
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Brachydactyly ORPHA:1277
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Tiger tail banding, Sparse eyebrow, Brachydactyly, Sparse hair OMIM:619692
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Metaphyseal irregularity, Shortening o... ORPHA:750
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... ORPHA:429
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormality of hair text... OMIM:601957
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Postaxial foot p... OMIM:617405
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Acromicric Dysplasia
Abnormal femur morphology, Short metacarpal, Long eyelashes, Short palm, Abnormal eyebrow morphol... ORPHA:969
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Brachydact... OMIM:610017
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal ORPHA:228190
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Keipert Syndrome
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Clinodac... OMIM:301026
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Bowing of the legs, Hirsutism, Lower limb undergrowth, Brachydactyly OMIM:612847
Craniosynostosis 3
Single transverse palmar crease, Hallux valgus, Low anterior hairline, Brachydactyly OMIM:615314
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Uncombable hair, Brachydactyly, Sparse hair, Short 5th metacarpal ORPHA:1264
Sillence Syndrome
Short finger, Chess-pawn distal phalanges, Large tarsal bones, Abnormal proximal phalanx morpholo... ORPHA:3168
Joubert Syndrome 15
Exencephaly OMIM:614464
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Sparse lateral eyebrow, High anterior hairline, Brachydactyly OMIM:618879
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Abnormality of the wrist, Abnormal femoral head morphology, Brachyte... ORPHA:2619
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:2928
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph... ORPHA:166011
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Short femoral neck, Br... OMIM:146000
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Woolly Hair Nevus
Woolly scalp hair, Curly hair, Congenital posterior occipital alopecia, Patchy hypopigmentation o... ORPHA:79414
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Jeune Syndrome
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... ORPHA:474
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... ORPHA:2831
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Metatropic Dysplasia
Narrow greater sciatic notch, Short finger, Caudal appendage, Dumbbell-shaped metaphyses, Flared ... OMIM:156530
Anauxetic Dysplasia 2
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Metaphyseal dy... OMIM:617396
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal hair quantity, Abnormality of... ORPHA:3098
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Hirsutism, Short foot... OMIM:300590
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Hirsutism, Postaxial hand polydactyly, Y-shaped metacar... OMIM:175700
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal finger m... ORPHA:2900
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Short metacarpal, S... OMIM:605282
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia ORPHA:1858
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Abnormal metacarpal morphology, Curly eyelashes, Sandal gap, High... ORPHA:3051
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ... OMIM:190351
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Single transverse palmar crease, Sparse scalp hair, Brachydactyly, Adduct... OMIM:620062
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Ventricular septal defect, ... ORPHA:2476
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Short thumb, Brachydactyly OMIM:165800
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Short phalanx of finger, Thick eyebrow, Brachydactyly, Widow's peak, Clinodactyly, ... OMIM:614684
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Short metacarpal, Broad metacarpals, Broad thumb, Interphalange... OMIM:151200
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Bowing of the long bones, Brachydactyly ORPHA:40
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Triangul... OMIM:251450
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Br... OMIM:600325
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... ORPHA:363417
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Thick eyebrow, Brachy... ORPHA:444002
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Abnormality of hair texture, Wooll... ORPHA:1520
Waardenburg Syndrome, Type 3
Premature graying of hair, Scapular winging, Synophrys, White forelock, Cutaneous finger syndacty... OMIM:148820
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Alopecia-Intellectual Disability Syndrome
Split hand, Sparse scalp hair, Sparse body hair, Brachydactyly, Aplasia/Hypoplasia of the eyebrow... ORPHA:2850
Acrocephalopolydactyly
Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Potocki-Shaffer Syndrome
Sparse lateral eyebrow, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachyd... OMIM:601224
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Brachydactyly ORPHA:1436
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Fla... OMIM:250420
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, Dislocated radial ... OMIM:617604
Erythrokeratodermia Variabilis
Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Brachydactyl... ORPHA:317
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Dystrophic fingernails, Abnormality of t... ORPHA:1657
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... ORPHA:440354
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Low po... ORPHA:93333
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Anauxetic Dysplasia 3
High anterior hairline, Hip subluxation, Genu valgum, Broad eyebrow, Broad middle phalanx of fing... OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 59
Highly arched eyebrow, Short palm, Short foot, Brachydactyly OMIM:618522
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Short middle phalanx of finger, Brachydactyly OMIM:612626
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Non-Distal Deletion 10Q
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Synophrys, Brachydact... ORPHA:1581
Cutis Laxa, Autosomal Recessive, Type Iie
Deep palmar crease, Clinodactyly of the 5th finger, Highly arched eyebrow, Long eyelashes, Syndac... OMIM:619451
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen... OMIM:620662
Spondyloepiphyseal Dysplasia, Nishimura Type
Small hand, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Delayed epiphyseal... OMIM:618618
Lowry-Wood Syndrome
Abnormality of nail color, Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dys... ORPHA:1824
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Clinodactyly of the 5th finger, Brachydactyly OMIM:244600
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced os... OMIM:614613
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Radioulnar synostosis, Ulnar deviation of finger, Toe syndactyly ORPHA:921
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Facial hirsutism, Curly eyelashes, Abnormal metatarsal morphology, Short long bon... ORPHA:163654
Temtamy Syndrome
Short toe, Brachydactyly, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
Roifman Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Broad femoral head, I... ORPHA:353298
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... ORPHA:3121
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Roifman Syndrome
Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, Hip contractur... OMIM:616651
Acrodysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ... ORPHA:950
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Curly eyelashes, Small epiphys... OMIM:611717
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Po... OMIM:136760
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Synophrys ORPHA:1390
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Campto... ORPHA:3409
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda... OMIM:258860
Lowry-Wood Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El... OMIM:226960
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb undergrowth, Br... OMIM:618961
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly ORPHA:2377
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Hirsutism, Broad thumb, Short pal... OMIM:620073
Atelosteogenesis Type Ii
Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion... ORPHA:56304
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Chst3-Related Skeletal Dysplasia
Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Cubitus valgus, Highly arched eyeb... ORPHA:263463
Thanatophoric Dysplasia, Type Ii
Flared metaphysis, Short greater sciatic notch, Hypoplastic ilia, Micromelia, Brachydactyly, Meta... OMIM:187601
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Brachydactyly, Widow's peak OMIM:266265
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Greenberg Dysplasia
Abnormal pelvis bone ossification, Rhizomelia, Brachydactyly, Micromelia ORPHA:1426
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Sparse scalp hair, Arachnodactyly, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis ORPHA:2824
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Highly arched eyebrow, Scapular winging, Synophrys, Camptodactyly of finger, Shor... ORPHA:1327
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Abnormal eyelash morphology, Abnormality of the humerus, Camptodactyl... ORPHA:1794
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Mesomelia, Metaphyseal widening, Brac... OMIM:612813
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... OMIM:607095
Marinesco-Sjögren Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, Brachydactyly, Hip dyspla... ORPHA:559
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Clinodactyly of the 5th finger, Ulnar bowing, Flared metaphysis, Slender... OMIM:210720
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... ORPHA:15
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... OMIM:614091
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, 2-3 toe syndactyly, Tapered finger, Long fingers, Broad hallux, Short toe, Brachyda... OMIM:618659
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Clinodactyly of the 5th finger, Thick hair, Synophrys, Horizontal eyebrow, Long eyelashes, Thick ... OMIM:618381
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Narrow palm, Thick eyebrow, Brachy... OMIM:615547
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Cardiospondylocarpofacial Syndrome
Short palm, Synostosis of carpal bones, Brachydactyly ORPHA:3238
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,... OMIM:614376
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Progressive Osseous Heteroplasia
Brachydactyly ORPHA:2762
Diamond-Blackfan Anemia 21
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Synophrys, Horizontal eyebrow... OMIM:620072
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, Flared iliac wing, Coxa vara, Metaphyseal cupping of metacarpals, ... OMIM:300232
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Synophrys, Short thumb, Brachydac... ORPHA:401935
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone,... OMIM:151210
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Brachydactyly OMIM:612463
20P13 Microdeletion Syndrome
Polydactyly, Highly arched eyebrow, Finger syndactyly, Synophrys, Brachydactyly, Clinodactyly ORPHA:313781
Carpenter Syndrome 1
Genu valgum, Clinodactyly of the 5th finger, Pseudoepiphyses of the proximal phalanges of the han... OMIM:201000
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Leukonychia, Ivory epiphyses of the di... OMIM:190350
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Micromelia ORPHA:2145
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Abnormal metacarpal morphology, Synophrys, Brachydactyly, Short distal phalanx of fi... ORPHA:1295
Kury-Isidor Syndrome
Rocker bottom foot, Proximal placement of thumb, Talipes equinovarus, Finger syndactyly, Brachyda... OMIM:619762
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short nail, Short humer... ORPHA:420794
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Bilateral tali... OMIM:269250
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Brachydactyly, Long eyelashes ORPHA:2863
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... ORPHA:439822
16P12.1P12.3 Triplication Syndrome
2-3 toe syndactyly, Prominent fingertip pads, Thick eyebrow, Brachydactyly, Short 5th finger, Hal... ORPHA:485405
Spastic Paraplegia 20, Autosomal Recessive
Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Brachydactyly, Clinodactyly OMIM:275900
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Prominent fingertip pads, Camptodactyly, Long eyelashes, Broad thumb, Mesomelia, Broa... OMIM:618529
Acrofacial Dysostosis, Catania Type
Short palm, Single transverse palmar crease, Brachydactyly, Widow's peak OMIM:101805
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Thick hair, Slow-growing hair, Limb undergrowth, Brachydactyly, A... ORPHA:2107
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han... OMIM:252100
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,... OMIM:618870
Joubert Syndrome 10
Brachydactyly, Hirsutism, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:300804
Coffin-Siris Syndrome 2
Sandal gap, Hirsutism, Sparse scalp hair, Long eyelashes, Thick eyebrow, Low anterior hairline, B... OMIM:614607
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial hand polydactyly, Limb undergrow... OMIM:619143
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Acrofrontofacionasal Dysostosis
Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, A... ORPHA:1784
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Low posterior hairline, Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abno... ORPHA:2701
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Adams-Oliver Syndrome 6
Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Sh... ORPHA:503
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Hirsutism, Brachydactyly, Bent long bone OMIM:614592
Spinocerebellar Ataxia, Autosomal Recessive 20
Camptodactyly, Hypertrichosis, Brachydactyly, Clinodactyly, Talipes equinovarus OMIM:616354
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Cubitus valgus, Facial hirsutism, Hirsutism, Synophrys, ... ORPHA:247768
Opsismodysplasia
Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Hypoplasti... ORPHA:2746
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, Synostosis of carpal bones, Short mi... ORPHA:1005
Suleiman-El-Hattab Syndrome
Polydactyly, Highly arched eyebrow, Single transverse palmar crease, Hirsutism, Synophrys, Fronta... OMIM:618950
Al-Raqad Syndrome
Brachydactyly, Sandal gap OMIM:616459
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly OMIM:610498
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... OMIM:250220
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Highly arched eyebrow... ORPHA:1001
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel... OMIM:617866
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, High anterior hairline, Proximal placement of thumb, Broad eyebrow, Ab... ORPHA:94065
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... ORPHA:251014
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Single transverse palmar crease, Clinodactyly, Camptodactyly OMIM:613604
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyl... OMIM:236500
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Synophrys, Brachydactyly, Talipes equinovarus ORPHA:3306
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Mesomelia, Rhizomelia, Brachydactyly ORPHA:171866
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ... OMIM:617061
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Hall-Riggs Syndrome
Metaphyseal dysplasia, Brachydactyly OMIM:234250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Bowed humerus, Metaphysea... OMIM:618019
Frank-Ter Haar Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Brachyda... ORPHA:137834
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Highly arched eyebrow, Finger syndactyly, Abnormal distal phalanx... ORPHA:783
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S... OMIM:615503
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Abnormal sacroiliac joint morphology, ... ORPHA:2655
Aarskog-Scott Syndrome
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... OMIM:305400
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Brachydactyly ORPHA:3085
Specific Granule Deficiency 2
Brachydactyly, Hirsutism, Sandal gap OMIM:617475
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Single transverse palmar crease, Micromelia, Thick eyebrow, Syndactyly, Broad hallux,... OMIM:614800
Laron Syndrome
Abnormality of the elbow, Short toe, Brachydactyly ORPHA:633
Acrofacial Dysostosis, Catania Type
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... ORPHA:1786
Lymphedema-Hypoparathyroidism Syndrome
Brachydactyly, Increased carrying angle, Hypertrichosis OMIM:247410
Short Stature With Microcephaly And Distinctive Facies
Proximal placement of thumb, Sparse scalp hair, Sparse eyebrow, Syndactyly, Brachydactyly, Short ... OMIM:615789
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ... OMIM:615630
Jansen-De Vries Syndrome
Short foot, Brachydactyly, Small hand OMIM:617450
Cleidocranial Dysplasia
Abnormal thumb morphology, Dystrophic fingernails, Genu valgum, Clinodactyly of the 5th finger, A... ORPHA:1452
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Highly arched eyebrow, Short metacarpal, Short fourth metatarsal, Short pha... OMIM:600430
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Brachydactyly, Epiphyseal stippling ORPHA:1914
Fountain Syndrome
Abnormal metacarpal morphology, Synophrys, Large hands, Thick eyebrow, Coarse metaphyseal trabecu... ORPHA:3219
Temtamy Syndrome
Highly arched eyebrow, Short 2nd toe, Brachydactyly, Talipes equinovarus, Hip dislocation OMIM:218340
Atelosteogenesis, Type I
Fibular aplasia, Short finger, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in... OMIM:108720
Lujan-Fryns Syndrome
Camptodactyly of finger, Arachnodactyly, Brachydactyly ORPHA:776
Trichorhinophalangeal Syndrome Type 2
Bilateral single transverse palmar creases, Genu valgum, Cone-shaped epiphyses of the phalanges o... ORPHA:502
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... OMIM:618914
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Short foot, Sandal gap, Small hand OMIM:300354
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Broad thumb, Large hands, Abnormal hair pattern, Brac... ORPHA:1770
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypoplastic pelvis... OMIM:614813
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Brachydactyly ORPHA:79320
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Sparse hair... OMIM:601559
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomeris... OMIM:306955
Tonne-Kalscheuer Syndrome
Broad thumb, Fine hair, Brachydactyly OMIM:300978
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Anal atresia, Omphalocele, Spinal dysraphism, Cervica... ORPHA:63260
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad distal phalanx of finger, Patchy alopecia, Broad thumb, Brachydactyly, Sparse hair OMIM:617763
Feingold Syndrome
Clinodactyly of the 5th finger, Deviation of the 2nd finger, Brachydactyly, Toe syndactyly, Hallu... ORPHA:1305
Adams-Oliver Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the upper limb, Spl... ORPHA:974
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Highly arched eyebrow, Camptodactyly of finger, Abnor... ORPHA:2083
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... OMIM:617425
Coffin-Siris Syndrome 6
Clinodactyly, Brachydactyly OMIM:617808
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Abnormal hair whorl, Clinodactyly, Brachydactyly OMIM:614261
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar crease, 2-3 toe s... OMIM:614701
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Generalized hirsutism, Brachydactyly ORPHA:1563
Chitayat Syndrome
Hallux valgus, Brachydactyly OMIM:617180
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Brachydactyly ORPHA:93262
Roberts Syndrome
Bilateral single transverse palmar creases, Hypoplasia of the radius, Radial deviation of finger,... ORPHA:3103
Codas Syndrome
Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Brachydacty... ORPHA:1458
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... ORPHA:2710
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Short nail, 2-4 toe syndactyly... OMIM:614099
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
High anterior hairline, Clinodactyly of the 5th finger, Short distal phalanx of toe, Thick eyebro... ORPHA:1292
Smith-Magenis Syndrome
Synophrys, Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm OMIM:182290
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Short toe, Brachydactyly OMIM:103580
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Medial flaring of the eyebrow, Short femur, Synophrys, Symphalangism of the thumb, Increased femo... OMIM:620494
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Coxa valga ORPHA:2163
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,... OMIM:170390
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Thick hair, ... OMIM:610759
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Short metacarpal, Sparse eyelashes, Sparse eyebrow, Metaphyseal dysplasia... OMIM:250410
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y... OMIM:277170
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... ORPHA:989
Aredyld Syndrome
Sparse body hair, Abnormal pelvic girdle bone morphology, Brachydactyly, Aplasia/Hypoplasia of th... ORPHA:1133
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Brachydactyly, Short fourth metatarsal ORPHA:464288
Corneodermatoosseous Syndrome
Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, ... ORPHA:3194
Coffin-Siris Syndrome 7
Thick eyebrow, Sparse scalp hair, Brachydactyly, Clinodactyly of the 5th finger OMIM:618027
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodac... OMIM:618727
Osteoglophonic Dysplasia
Broad metacarpals, Rhizomelia, Short metatarsal, Short metacarpal, Broad metatarsal, Bowing of th... OMIM:166250
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Hypoplastic... ORPHA:2347
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Short long bone, Limb undergrowth, Brachydactyly, Abnorma... ORPHA:1190
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Sandal gap, Singl... ORPHA:96148
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Brachydactyly, Micromelia ORPHA:93274
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... OMIM:612651
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Camptodactyly, Broad thumb, Partial duplication of th... OMIM:616331
Radio-Tartaglia Syndrome
High anterior hairline, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelashes, Synophry... OMIM:619312
Rhyns Syndrome
Brachydactyly, Short long bone, Short femoral neck, Radial bowing OMIM:602152
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,... OMIM:618162
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Short metacarpal, Absent eyebrow, Brachydactyly, Metaphyseal chondrodysplasia, ... ORPHA:166035
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Sandal gap ORPHA:2180
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, C... ORPHA:488642
Monosomy 18P
Brachydactyly, Low posterior hairline, Alopecia ORPHA:1598
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly OMIM:614526
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... OMIM:268310
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Low posterior hairline, Brachydactyly... ORPHA:2916
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Slender long bone OMIM:618265
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses... OMIM:271510
Rin2 Syndrome
Hirsutism, Sparse scalp hair, Brachydactyly ORPHA:217335
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia OMIM:600092
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly ORPHA:436245
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Brachydactyly ORPHA:3218
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cubitus valgus, Patchy alopecia, Large hands, Thick eyebrow, Brachydactyly, Short distal phalanx ... OMIM:300534
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic nipples, Camptoda... ORPHA:261323
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Micromeli... ORPHA:2637
Adams-Oliver Syndrome 5
Dystrophic toenail, Syndactyly, Brachydactyly OMIM:616028
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dislocation of ... OMIM:616007
Craniofrontonasal Syndrome
Breast hypoplasia, Clinodactyly of the 5th finger, Unilateral breast hypoplasia, Low posterior ha... OMIM:304110
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Low posterior hairli... OMIM:601358
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Acetabular dysplasia, Abnormal ilium morpho... ORPHA:508533
Fgfr2-Related Bent Bone Dysplasia
Short clavicles, Hirsutism, Steep acetabular roof, Hypoplastic ischia, Brachydactyly, Incomplete ... ORPHA:313855
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... OMIM:101800
Greenberg Dysplasia
Diaphyseal undertubulation, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Epi... OMIM:215140
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Highly arched eyebrow, Central Y-shaped metacarpal, ... ORPHA:2754
Coffin-Lowry Syndrome
Broad finger, Abnormal diaphysis morphology, Narrow iliac wing, Short metacarpal, Large hands, Ps... ORPHA:192
Smith-Magenis Syndrome
Clinodactyly of the 5th finger, Synophrys, Hand polydactyly, Brachydactyly, Toe syndactyly ORPHA:819
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Highly arched e... OMIM:143095
Osteoglosphonic Dysplasia
Rhizomelia, Brachydactyly ORPHA:2645
Pseudoaminopterin Syndrome