Gene Summary

Name:
sonic hedgehog
Synonyms:
Hhg1

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
decreased lean body mass Shhtm1b(EUCOMM)Wtsi HET Early adult 1.08×10-08
decreased bone mineral content Shhtm1b(EUCOMM)Wtsi HET Early adult 4.24×10-06
preweaning lethality, complete penetrance Shhtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased lean body mass Shhtm1Chg HET Early adult 3.12×10-05
impaired glucose tolerance Shhtm1b(EUCOMM)Wtsi HET Early adult 2.70×10-06
increased total body fat amount Shhtm1b(EUCOMM)Wtsi HET Early adult 1.29×10-09
increased startle reflex Shhtm1Chg HET Early adult 4.41×10-08
increased circulating HDL cholesterol level Shhtm1b(EUCOMM)Wtsi HET Early adult 6.27×10-07
limb grasping Shhtm1Chg HET Early adult 5.19×10-05

Download data as:  TSV  XLS

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

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% (2 of 2)
Brain N/A homozygote 33.33% (1 of 3)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 66.67% (2 of 3)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Not available
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 66.67% (2 of 3)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Not available
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 33.33% (1 of 3)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 33.33% (1 of 3)

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.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

OPT E9.5

Embryo reconstruction

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Shh 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.

The table below shows human diseases associated to Shh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Solitary Median Maxillary Central Incisor
Anophthalmia, Microcephaly, Hypotelorism, Coloboma, Microphthalmia, Cyclopia OMIM:147250
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Microform Holoprosencephaly
Hypoplasia of penis, Short stature, Cleft palate, Hypotelorism, Agenesis of corpus callosum, Holo... ORPHA:280200
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat... ORPHA:93924
Holoprosencephaly 3
Cyclopia, Proptosis, Holoprosencephaly, Hypotelorism OMIM:142945
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Abnormal rib morphology, Anteriorly placed ... ORPHA:280195
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Schizencephaly
Agenesis of corpus callosum OMIM:269160

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Hhhh Syndrome
Hemiatrophy OMIM:306960
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... OMIM:132400
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Wahab Syndrome
Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin... OMIM:615170
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowe... ORPHA:1839
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hi... OMIM:618853
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... ORPHA:93351
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly ORPHA:945
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... ORPHA:40
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Recurrent patellar dislocatio... OMIM:614078
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... OMIM:156510
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... OMIM:615222
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Pulmonary hypoplasia, Neonatal death OMIM:245650
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... OMIM:185700
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Ky... ORPHA:263463
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap... ORPHA:93307
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... OMIM:102370
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... OMIM:305620
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... ORPHA:2522
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, Small han... ORPHA:969
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormal hair morphology, Tracheoesophageal fis... ORPHA:2591
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Knee pain, Delayed epiphys... OMIM:600969
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b... OMIM:274000
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... OMIM:601356
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
2q37 monosomy
Brachydactyly DECIPHER:44
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... OMIM:256050
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Narrow chest, S... OMIM:180870
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... OMIM:613091
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... ORPHA:2831
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Holoprosencephaly 5
Syntelencephaly, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly,... OMIM:609637
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Cl... OMIM:260660
Peripheral Dysostosis
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly ORPHA:1795
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Knee flexion contract... OMIM:271665
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Camptodactyly of finger, K... OMIM:612350
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Paternal Uniparental Disomy Of Chromosome X
Shield chest, Cubitus valgus, Short metacarpal, Short neck ORPHA:261524
Legg-Calvé-Perthes Disease
Cartilage destruction, Delayed skeletal maturation, Avascular necrosis, Joint dislocation ORPHA:2380
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Micrognathia, Tapered finger, Large hands, Short 5th metacarpal OMIM:102150
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Molar tooth sign on MRI, Agenesis of ... OMIM:277170
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... OMIM:190351
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho... OMIM:118651
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Hypertelorism, Microcephaly, Radial club hand, Proptosis, Low-... ORPHA:2165
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Eng-Strom Syndrome
Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly ORPHA:1937
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Cooks Syndrome
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly ORPHA:1487
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... OMIM:617102
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... OMIM:619636
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Holoprosencephaly, Tapered finger OMIM:300706
Tetrasomy X
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... ORPHA:9
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Postaxia... OMIM:264480
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Acces Syndrome
Recurrent respiratory infections, Sparse scalp hair, Tracheoesophageal fistula, Supernumerary nipple OMIM:619959
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... ORPHA:2619
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spondylometaphyseal Dysplasia, Corner Fracture Type
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... OMIM:184255
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas... OMIM:134780
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, High palate, Atrial s... OMIM:300373
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Elbow... ORPHA:85170
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Hearing impairment, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply... OMIM:614257
Trisomy 18
Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral single transverse palmar crease... ORPHA:3380
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia OMIM:615524
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... ORPHA:294975
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... OMIM:609441
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly OMIM:263450
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal ... ORPHA:1834
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly OMIM:615983
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Hyd... ORPHA:63259
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... OMIM:311895
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Short stature, Holoprosencephaly, Tapered finger OMIM:619033
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Accelerated skeletal maturation, Short... OMIM:165800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pr... OMIM:215150
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... OMIM:616549
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Hyp... ORPHA:1908
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplas... ORPHA:142
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generali... OMIM:618000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... OMIM:146000
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... OMIM:615777
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... OMIM:171480
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:439822
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn... ORPHA:628
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... OMIM:613885
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly ORPHA:1277
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness OMIM:607641
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Hypertelorism, Abnormal pinna morphology, Brachydactyly OMIM:612001
Phenobarbital Embryopathy
Hypospadias, Hypertelorism, Microcephaly, Aplasia/Hypoplasia of fingers, Low-set ears, Brachydactyly ORPHA:1919
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... ORPHA:3121
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Pyknoachondrogenesis
Stillbirth OMIM:265880
20Q11.2 Microdeletion Syndrome
Brachydactyly, Hearing impairment, Hypertelorism, Finger clinodactyly, Deeply set eye, Camptodact... ORPHA:444051
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal metacarpal morpho... ORPHA:2511
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the hallux, Single transverse palmar creas... OMIM:609432
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip di... OMIM:605274
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,... OMIM:614613
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Limitation of joint mobility, Scoli... ORPHA:376
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... ORPHA:1927
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Solitary Median Maxillary Central Incisor
Anophthalmia, Microcephaly, Hypotelorism, Coloboma, Microphthalmia, Cyclopia OMIM:147250
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Hartsfield Syndrome
Encephalocele, Hypertelorism, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radi... ORPHA:2117
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Neonatal death, Anal atresia OMIM:314390
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Recurrent respiratory infections, Short toe, Growth delay, Abnormal long bone morphology, Abnorma... OMIM:259270
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short neck, Osteoporosis, Short metatarsal, Enamel h... OMIM:612463
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Short stature, Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar ... OMIM:119800
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal death, Esophageal atresia, Pulmonary artery stenosis, ... OMIM:265380
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... OMIM:605282
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly ORPHA:238446
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Senso... ORPHA:139471
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Micr... OMIM:611890
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m... ORPHA:1458
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia of the cerebellum, Man... ORPHA:990
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... ORPHA:3210
Holoprosencephaly
Hypoplasia of penis, Short neck, Abnormal form of the vertebral bodies, Hypotelorism, Deeply set ... ORPHA:2162
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... OMIM:211350
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, S... OMIM:618392
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... ORPHA:296
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Cervical cord compression, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... ORPHA:93941
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Tracheoesophageal fistul... ORPHA:3068
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormia... OMIM:619638
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath... ORPHA:2189
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Deeply set eye, Holoprosencephaly, Hydranencephaly, Intrauterine growth ... ORPHA:2570
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly OMIM:607539
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... ORPHA:77258
Dyskeratosis Congenita
Anorectal anomaly, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alopecia, Ab... ORPHA:1775
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Short middle phalanx of finger, Talipes ... OMIM:612626
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short 1st metacarpal, Delayed skeletal maturation, Joint hyperflexibil... ORPHA:63442
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Micrognathia,... ORPHA:2166
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Hypertelorism, Anencephaly, Holopr... ORPHA:1590
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Delayed skeletal maturation, Short thumb, Short metacarpal ORPHA:2489
Cochleosaccular Degeneration-Cataract Syndrome