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 Shhtm1Chg HET Early adult 3.12×10-05
preweaning lethality, complete penetrance Shhtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
impaired glucose tolerance Shhtm1b(EUCOMM)Wtsi HET Early adult 2.54×10-06
limb grasping Shhtm1Chg HET Early adult 5.19×10-05
increased total body fat amount Shhtm1b(EUCOMM)Wtsi HET Early adult 1.29×10-09
decreased bone mineral content Shhtm1b(EUCOMM)Wtsi HET Early adult 4.24×10-06
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
decreased lean body mass Shhtm1b(EUCOMM)Wtsi HET Early adult 1.08×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 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
Microphthalmia, Cleft upper lip, Anophthalmia, Solitary median maxillary central incisor, Decreas... OMIM:147250
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Or... OMIM:611638
Microform Holoprosencephaly
Cleft palate, Intrauterine growth retardation, Short philtrum, Solitary median maxillary central ... ORPHA:280200
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... ORPHA:93321
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Cleft palate, High p... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Cleft palate, High p... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Cleft palate, High p... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Cleft palate, High p... ORPHA:93924
Holoprosencephaly 3
Cleft palate, Solitary median maxillary central incisor, Hypotelorism, Bifid uvula, Cleft lip, Pr... OMIM:142945
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morp... ORPHA:280195
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy 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
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Long-Thumb Brachydactyly Syndrome
Long thumb, Brachydactyly, Short finger OMIM:112430
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Cleidorhizomelic Syndrome
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... ORPHA:1453
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly ORPHA:3314
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... OMIM:112800
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly ORPHA:1078
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Brachydactyly, Type A2, With Microcephaly
Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger, Type A2 brachydactyly,... OMIM:211369
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Hhhh Syndrome
Hemiatrophy OMIM:306960
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Brachydactyly, Type B1
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... OMIM:113000
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Talipes equinovarus, Hypoplasia of the fem... OMIM:226900
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Wahab Syndrome
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... OMIM:615170
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, Microcephaly OMIM:615771
Spondyloperipheral Dysplasia
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... OMIM:271700
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Short middle... OMIM:186000
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fib... ORPHA:1839
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Delayed s... ORPHA:3268
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... OMIM:609052
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... ORPHA:3237
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Malar flattening, 11 pairs of ribs,... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of e... ORPHA:93351
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Genu varum, Metaphyseal dysplasia, Metaphyseal cupping of me... OMIM:250460
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Acalvaria
Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephalus, Postaxial hand polydactyly ORPHA:945
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Anauxetic Dysplasia 3
Pectus excavatum, Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Gen... OMIM:618853
Kniest Dysplasia
Aplasia/hypoplasia of the extremities, Short thorax, Short long bone, Coronal cleft vertebrae, Ve... ORPHA:485
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger, Short long bone,... OMIM:184260
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Hypercholesterolem... OMIM:610947
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... OMIM:156510
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... OMIM:223800
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metop... OMIM:309620
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... OMIM:146000
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... OMIM:185700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Pectus excavatum, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae,... ORPHA:2522
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short distal phalanx of the 2nd finge... OMIM:616849
Saul-Wilson Syndrome
Micrognathia, Pectus excavatum, Talipes equinovarus, Pectus carinatum, Short metatarsal, Platyspo... OMIM:618150
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplastic scapulae, Beaking of verte... OMIM:607326
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Abnormal cartilage matrix OMIM:245650
Asymmetric Short Stature Syndrome
Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Abnormality of the elbow, K... ORPHA:263463
Solitary Median Maxillary Central Incisor
Microphthalmia, Cleft upper lip, Anophthalmia, Solitary median maxillary central incisor, Decreas... OMIM:147250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Short ne... OMIM:618469
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Radial club hand, Abnormality of the diencephalon, Hypertelorism, Abnormality of th... ORPHA:2165
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia, Fibular hypop... OMIM:601560
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Short phalanx of finger, Ovoid vertebra... OMIM:102370
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Protuberances at end... OMIM:133700
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O... ORPHA:50809
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Large for gestational age OMIM:248110
Infantile Myofibromatosis
Abnormal intestine morphology, Neoplasm of the lung, Abnormal hair morphology, Neoplasm of the pa... ORPHA:2591
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Protuberances at end... OMIM:133701
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality... ORPHA:3098
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Tetrasomy X
Hypertelorism, Hip dysplasia, Premature ovarian insufficiency, Abnormality of the dentition, Clin... ORPHA:9
Thiemann Disease
Short phalanx of finger, Broad phalanx, Avascular necrosis OMIM:165700
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... ORPHA:168549
Heart-Hand Syndrome Type 3
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe ORPHA:1342
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Limited knee extension, Epip... OMIM:600969
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Hydrocephalus, Camptodactyly of finger, Micrognathia, Bowing of the lo... ORPHA:90652
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Atelosteogenesis, Type Ii
Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali... OMIM:256050
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Talipes equinovarus, Short stature, Hamartoma of tongue, Short ribs, ... OMIM:613091
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Platyspondyly, Wormian bones, Shortenin... OMIM:601356
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial ap... OMIM:274000
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Narrow chest, Limited elbow... OMIM:180870
Matthew-Wood Syndrome
Intrauterine growth retardation, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the p... ORPHA:2470
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ... ORPHA:2831
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Chromosome 8Q22.1 Duplication Syndrome
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... OMIM:151200
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Short stature, Hypoplasia of the radius, Fing... OMIM:228930
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Cleft palate, Talipes equinovarus, Short fin... OMIM:222600
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Broad palm, Narrow pelvis bone, Cubitus va... ORPHA:79106
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... OMIM:113450
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Pycnodysostosis
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Abnormality of p... OMIM:265800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Beak... OMIM:215150
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal vertebral segmentation and fusion, Abnormal sacrum ... ORPHA:2345
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal ga... OMIM:617102
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abnormally ossifi... ORPHA:1427
2q37 monosomy
Brachydactyly DECIPHER:44
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Peripheral Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Broad toe, Toe synda... OMIM:263540
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Achondroplasia
Limited hip extension, Genu varum, Lumbar kyphosis in infancy, Spinal stenosis with reduced inter... OMIM:100800
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Pectus carinatum, Short metatarsal, Metaphyseal irregul... OMIM:615222
Chromosome 20Q11-Q12 Deletion Syndrome
Intrauterine growth retardation, Adducted thumb, Short philtrum, Hypertelorism, Hearing impairmen... OMIM:614257
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... OMIM:609655
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Legg-Calvé-Perthes Disease
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation ORPHA:2380
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Hypoplastic sacrum, Carpal bone hypoplasia, Hypoplastic pelvis, Cone-shaped epiphy... OMIM:304950
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... OMIM:300106
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Paternal Uniparental Disomy Of Chromosome X
Short neck, Cubitus valgus, Shield chest, Short metacarpal ORPHA:261524
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Irregular vertebral endplates, Tapered finger, Kyphoscoliosis, Di... OMIM:612350
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... OMIM:182255
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Short metatarsal, Avascu... OMIM:190351
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Jejun... OMIM:601346
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Short toe, Platyspondyly, Flared... OMIM:607095
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Hypotelorism, Hypertelorism, Syntelencephaly, Hydroce... OMIM:609637
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Microphthalmia, Median cleft lip and palate, Cleft upper lip, Cyclopia, Hypot... OMIM:264480
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Craniosynostosis 3
Hallux valgus, Brachydactyly, Single transverse palmar crease OMIM:615314
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Trisomy 18
Cleft palate, Short stature, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus... ORPHA:3380
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebr... ORPHA:2347
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand ORPHA:1487
Frontometaphyseal Dysplasia
Short metatarsal, Joint contracture of the hand, Progressive bowing of long bones, Camptodactyly ... ORPHA:1826
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Eng-Strom Syndrome
Pectus excavatum, Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Intrauterine growth retardation OMIM:306990
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Genu valgum, Short foot, Short metacarpal, Patellar dislocation, Short toe, Coronal... OMIM:614078
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Malar flattening, Short toe, Anterior scalloping of vertebral bodies, Single inte... OMIM:611717
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Micropenis, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Con... OMIM:616331
Iniencephaly
Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly, Rocker bottom foot, Rhizom... ORPHA:63259
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft palate, Dysplastic corpus callosum, Anterior hypopituitarism, Cleft upper lip, Limb undergr... OMIM:601016
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... OMIM:609616
Hydrolethalus
Micrognathia, Cleft palate, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum, Microphtha... ORPHA:2189
Otopalatodigital Syndrome Type 1
Short hallux, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of ... ORPHA:90650
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Wt Limb-Blood Syndrome
Micrognathia, Ulnar deviation of thumb, Clinodactyly of the 5th finger, Short thumb, Absent thumb... OMIM:194350
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Or... OMIM:611638
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abnormality of t... ORPHA:2879
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Polydactyly, Talipes equinovarus, Cleft upper lip, Anophthalmia, Po... OMIM:613885
Tetralogy Of Fallot
Intrauterine growth retardation, Thin vermilion border, Clinodactyly of the 5th finger, Proptosis... ORPHA:3303
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis ORPHA:71289
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Talipes equinovarus, Short stature, Joint contracture of the hand, Patent ductus ar... OMIM:300373
20Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Adducted thumb, Short philtrum, Hypertelorism, Hearing impairmen... ORPHA:444051
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Malar flattening, Short ribs,... OMIM:304120
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Microglossia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ce... ORPHA:990
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Short stature, Mirror image foot polydactyly, Hypertelorism, S... OMIM:119800
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosi... ORPHA:2790
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals OMIM:618724
Chromosome 16P13.3 Duplication Syndrome
Pectus excavatum, Tapered finger, Long fingers, Malar flattening, Proximal placement of thumb, Hi... OMIM:613458
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Distal arthrogryposis, Talipes equinovarus, Camptodactyly of finger,... OMIM:114300
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Shield chest, Hypoplasia of the femoral head, Cubi... OMIM:617396
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... OMIM:259610
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Low anterior hairline, Anal atresia, Distichiasis, Sparse hair OMIM:227260
Atelosteogenesis, Type Iii
Cervical segmentation defect, Knee dislocation, Micrognathia, Tibial bowing, Radial bowing, Horiz... OMIM:108721
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Micrognathia, High palate, Rocker bottom foot, Talipes equinovarus, Hand clench... OMIM:611890
Microphthalmia With Brain And Digit Anomalies
High palate, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Proximal placement of thumb, F... ORPHA:139471
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Abnormal thorax morphology, Syndactyly, Upper l... ORPHA:294975
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Delayed skeletal maturation, Hyp... OMIM:170390
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flattening, Absent fr... OMIM:311300
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... ORPHA:166016
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Short stature, Bowing of the ... ORPHA:85170
Femoral-Facial Syndrome
Cleft palate, Truncus arteriosus, Talipes equinovarus, Short stature, Hypoplastic acetabulae, Mic... OMIM:134780
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
16P13.11 Microdeletion Syndrome
Smooth philtrum, Cleft palate, Wide mouth, Talipes equinovarus, Cleft upper lip, Cyclopia, Sensor... ORPHA:261236
Microform Holoprosencephaly
Cleft palate, Intrauterine growth retardation, Short philtrum, Solitary median maxillary central ... ORPHA:280200
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Duodenal Atresia
Abnormality of the pancreas, Abnormality of the pulmonary artery, Duodenal atresia, Annular pancreas ORPHA:1203
Keipert Syndrome
Hypertelorism, Thick upper lip vermilion, Abnormality of the pinna, Broad distal phalanx of finge... OMIM:301026
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal intestine morphology, Aplasia/Hypoplasia of the lungs, Morpho... ORPHA:1834
Cerebrooculonasal Syndrome
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Long philtrum, Anoph... ORPHA:66625
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Malar flattening, Prominent... ORPHA:457395
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... ORPHA:1426
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Multiple prenata... OMIM:610915
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,... OMIM:271665
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Hypogonadism, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... ORPHA:93322
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Dysspondyloenchondromatosis
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Abnormality of ulnar ... ORPHA:85198
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Hypertelorism, Unilateral cleft lip, Brachydactyly, M... ORPHA:1919
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Short stature, Pectus carinatum, Hyperconvex vertebral body endplates, Metaphyseal ir... OMIM:184255
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Flexion contracture, Short n... OMIM:616549
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hip contracture, Short thorax, Short long bone, Microretrognathia, Knee dislocatio... OMIM:618363
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Intrauterine growth re... OMIM:615710
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:337
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short stature, Genu varum, Limb undergrowth, Metaphyseal irregularity, Short rib... OMIM:602557
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Pelvis-Shoulder Dysplasia
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Short stature, ... ORPHA:2839
Aminopterin Syndrome Sine Aminopterin
Micrognathia, High palate, Cleft palate, Megalencephaly, Oligodontia, Umbilical hernia, Intrauter... OMIM:600325
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Short distal ph... OMIM:311895
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Abnormal skeletal muscle morphology, Goiter, Laryngotracheal ste... ORPHA:142
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Malar flattening, ... OMIM:251450
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Ecto... ORPHA:79445
Metachondromatosis
Bowing of the long bones, Abnormal joint morphology, Multiple enchondromatosis OMIM:156250
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor... ORPHA:439822
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Micrognathia, Cleft palate, Microphthalmia, Cyclopia, Low-set, posteriorly rotated e... ORPHA:2166
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Intestinal malrotation, ... ORPHA:3032
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, D... OMIM:609441
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Long thorax, Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the humerus, Hypoplasia of the ulna, Microphthalmia, Phocomelia, Aplasia/Hypoplasi... ORPHA:3186
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Short philtrum, Hypertelorism, Thin vermilion border, Macrotia... ORPHA:1406
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... ORPHA:628
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Multiple Pterygium Syndrome, Escobar Variant
Talipes equinovarus, Syndactyly, Dysplastic patella, Micrognathia, Patellar aplasia, Neck pterygi... OMIM:265000
Acrodysostosis
Spinal canal stenosis, Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Mand... ORPHA:950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Short phalanx of ... OMIM:615777
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary ve... OMIM:215140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypo... OMIM:276820
Vissers-Bodmer Syndrome
Holoprosencephaly, Intrauterine growth retardation, Short stature, Tapered finger OMIM:619033
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Achondroplasia
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... ORPHA:15
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... ORPHA:166024
Pyknoachondrogenesis
Stillbirth OMIM:265880
Acrofacial Dysostosis, Palagonia Type
Cutaneous finger syndactyly, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida oc... OMIM:601829
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Hypertelorism, Abnormality of the pinna, Brachydactyly OMIM:612001
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Brachydactyly, Short distal phalanx of finger, Joint hyperflexibility ORPHA:2787
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:186400
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Short metatarsal, Preaxial hand polydactyly, Short metacarpal, Br... ORPHA:1278
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Short stature, Dislocated radial head, Abnormal thorax... OMIM:605274
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... ORPHA:210122
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Hypotelorism, Conical tooth, Prominent antihelix, Post... OMIM:193530
Holoprosencephaly
Abnormal form of the vertebral bodies, Iris coloboma, Hydrocephalus, Aplasia/Hypoplasia of the co... ORPHA:2162
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Gordon Syndrome
Pectus excavatum, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Clino... ORPHA:376
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Temtamy Syndrome
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Microphthalmia, ... ORPHA:1777
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Pectus carinatum, Small hand, Synostosis of carp... ORPHA:3121
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Trisomy 13
Cleft palate, Abnormal morphology of female internal genitalia, Iris coloboma, Abnormality of pel... ORPHA:3378
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Micrognathia, Short middle phalanx of finger, Short 5th toe, Short 2nd toe, Talipe... OMIM:211920
Pseudopseudohypoparathyroidism
Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, S... OMIM:612463
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Mandibu... ORPHA:2511
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal palate morphology, Conductive hearing impairment, Cleft palate, Toe syndact... ORPHA:921
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Apla... ORPHA:1908
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... ORPHA:1927
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Malar flattening, Synostosis of joints, Abnormality of tibia morphology,... ORPHA:2496
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Talon cusp, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly,... OMIM:605282
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Hand muscle weakness, Abnormal lower motor neuron morphology OMIM:607641
Langer Mesomelic Dysplasia
Abnormality of the ulna, Ulnar deviation of finger, Bowing of the long bones, Mesomelic/rhizomeli... ORPHA:2632
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Cleft palate, Hand oligodactyly, Talipes equinovarus, Tibial bowing,... OMIM:206920
Leri Pleonosteosis
Broad thumb, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodies, Cubitus ... ORPHA:2900
Ollier Disease
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... ORPHA:296
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Mandibular prognathia, Short metatarsal, Malar flat... OMIM:614613