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
increased startle reflex Shhtm1Chg HET Early adult 4.41×10-08
increased total body fat amount Shhtm1b(EUCOMM)Wtsi HET Early adult 1.29×10-09
preweaning lethality, complete penetrance Shhtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating HDL cholesterol level Shhtm1b(EUCOMM)Wtsi HET Early adult 6.27×10-07
impaired glucose tolerance Shhtm1b(EUCOMM)Wtsi HET Early adult 2.64×10-06
decreased lean body mass Shhtm1Chg HET Early adult 3.12×10-05
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
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 0.69% (4 of 579)
aorta 0.17% (1 of 574)
bone 0.0%
brain 0.69% (4 of 581)
brainstem 0.35% (2 of 571)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.52% (3 of 579)
cerebral cortex 0.17% (1 of 580)
esophagus 1.71% (7 of 410)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 577)
hippocampus 0.35% (2 of 577)
hypothalamus 0.35% (2 of 579)
kidney 4.46% (26 of 583)
large intestine 5.5% (32 of 582)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 574)
lymph node 0.17% (1 of 580)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 583)
oral epithelium 0.0%
ovary 0.17% (1 of 581)
oviduct 0.0%
pancreas 0.86% (5 of 579)
parathyroid gland 0.18% (1 of 559)
peripheral nervous system 0.35% (2 of 575)
peyers patch 0.0%
pituitary gland 0.17% (1 of 586)
prostate gland 2.06% (12 of 582)
skeletal muscle 0.0%
skin 0.17% (1 of 579)
small intestine 5.56% (32 of 576)
spinal cord 0.51% (3 of 583)
spleen 0.34% (2 of 582)
stomach 3.67% (21 of 572)
striatum 0.52% (3 of 578)
testis 1.03% (6 of 580)
thymus 0.17% (1 of 584)
thyroid gland 3.1% (18 of 580)
trachea 0.52% (3 of 579)
uterus 0.34% (2 of 583)
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 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

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

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

OPT E9.5

Embryo reconstruction

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B 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
Hypotelorism, Microcephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia OMIM:147250
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Holoprosencephaly, Chorioretinal coloboma OMIM:611638
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Microform Holoprosencephaly
Duodenal atresia, Hypotelorism, Hypoplasia of penis, Cleft palate, Short stature, Holoprosencepha... ORPHA:280200
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, ... ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, ... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Hypotelorism, Decreased response to growth hormone stimulation test, ... ORPHA:93924
Holoprosencephaly 3
Proptosis, Hypotelorism, Cyclopia, Holoprosencephaly OMIM:142945
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Abnormal rib morpholog... ORPHA:280195
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Short stature, Synostosis of carpal bones, Abnormality of fibula... 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
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... 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 distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... ORPHA:1453
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe OMIM:176305
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Thumbs h... OMIM:211369
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Hhhh Syndrome
Hemiatrophy OMIM:306960
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... OMIM:132400
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Hip dysplasia, Scolios... OMIM:226900
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... OMIM:615170
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis, Fine hair, Ano... ORPHA:1839
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... OMIM:271700
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Chondrocalcino... OMIM:118610
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Symphalangism a... ORPHA:3237
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... ORPHA:93351
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... OMIM:151200
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Anauxetic Dysplasia 3
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Pectus ex... OMIM:618853
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb ORPHA:1471
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Acalvaria
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Hypertelorism, Spina bifida ORPHA:945
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... OMIM:184260
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... OMIM:608940
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal for... ORPHA:40
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... ORPHA:1350
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra... ORPHA:93284
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Scoliosis, Abnormality of the ankles, Brachydactyly, Bilateral single transverse... ORPHA:968
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Spinal cord compression ORPHA:85168
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Hypochondroplasia
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis,... OMIM:146000
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Saul-Wilson Syndrome
Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... OMIM:618150
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Distal foot symphalangism, Absent dorsal skin creas... OMIM:185700
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb OMIM:108450
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... ORPHA:3269
Smith-Mccort Dysplasia 1
Kyphosis, Multicentric femoral head ossification, Beaking of vertebral bodies, Hypoplastic acetab... OMIM:607326
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Scoliosis, Abnormal fo... ORPHA:263463
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... OMIM:618469
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... ORPHA:2522
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Micrognathia, Short neck, Abnor... ORPHA:3098
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Symphalangism With Multiple Anomalies Of Hands And Feet
Absent dorsal skin creases over affected joints, Proximal symphalangism of hands, Small thenar em... OMIM:185750
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Delayed eruption of... OMIM:305620
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes e... OMIM:601560
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Abnormal hand morpholog... ORPHA:93307
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Neoplasm of the lung, Intestinal obstruction... ORPHA:2591
Thiemann Disease
Avascular necrosis, Broad phalanx, Short phalanx of finger OMIM:165700
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Epiphyseal dysplasia, Short metacarpal, Osteoarthritis, Irregula... OMIM:600969
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Cleft pala... OMIM:274000
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... ORPHA:90652
Acromicric Dysplasia
Joint stiffness, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Small hand, ... ORPHA:969
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Platyspondyly, Upper limb undergrowth, Disproportionate short-... ORPHA:168549
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sand... OMIM:256050
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... ORPHA:1801
Exostoses, Multiple, Type Ii
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... OMIM:133700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... OMIM:601356
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Ruvalcaba Syndrome
Narrow chest, Kyphosis, Small hand, Scoliosis, Micromelia, Limited elbow extension, Short phalanx... OMIM:180870
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... ORPHA:166011
Diastrophic Dysplasia
Cervical kyphosis, Disproportionate short-limb short stature, Neonatal short-limb short stature, ... OMIM:222600
Matthew-Wood Syndrome
Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... OMIM:113450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... OMIM:215150
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Enlarged kidney, Hypoplasia of the ulna, Sho... OMIM:613091
2q37 monosomy
Brachydactyly DECIPHER:44
Holoprosencephaly 5
Hydrocephalus, Hypotelorism, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilo... OMIM:609637
Cousin Syndrome
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... OMIM:260660
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... ORPHA:1427
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... OMIM:263540
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1795
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Achondroplasia
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... OMIM:100800
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Paternal Uniparental Disomy Of Chromosome X
Shield chest, Short neck, Cubitus valgus, Short metacarpal ORPHA:261524
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Legg-Calvé-Perthes Disease
Avascular necrosis, Cartilage destruction, Delayed skeletal maturation, Joint dislocation ORPHA:2380
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Brachydactylous Dwarfism, Mseleni Type
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... ORPHA:2619
Brachydactyly Type E
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... ORPHA:93387
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Barrel-shaped ... OMIM:615222
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Micrognathia, Tapered finger, Large hands, Short 5th metacarpal OMIM:102150
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Dental malocclusion, Flat ... OMIM:612350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Hors... OMIM:609945
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Dyggve-Melchior-Clausen Syndrome, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... OMIM:304950
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Cooks Syndrome
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb ORPHA:1487
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Short 5th metacarpal, Short finger OMIM:604381
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Radial club hand, Microcephaly, Abnormal morphology of the radius, Proptosis, Cycl... ORPHA:2165
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Eng-Strom Syndrome
Pectus excavatum, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis ORPHA:1937
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... ORPHA:1826
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... ORPHA:2347
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Holoprosencephaly OMIM:300706
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Gen... ORPHA:429
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Short foot, Patell... OMIM:614078
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... OMIM:619636
Pseudotrisomy 13 Syndrome
Hypotelorism, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Encephalocele, Micropenis, M... OMIM:264480
Tetrasomy X
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... ORPHA:9
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Pectus excavatum, Short metacarpal, Platyspondyly, Short neck, Small epiphyses, Short long bone, ... OMIM:611717
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Barrel-shaped chest,... OMIM:610915
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... ORPHA:56304
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Ulnar deviation of thum... OMIM:194350
Acces Syndrome
Sparse scalp hair, Tracheoesophageal fistula, Supernumerary nipple, Recurrent respiratory infections OMIM:619959
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Arthrogryposis, Distal, Type 3
Pectus excavatum, Congenital hip dislocation, Short neck, Down-sloping shoulders, Single transver... OMIM:114300
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation,... OMIM:304120
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Malar flattening, Short phalanx of finger, Tapered finger, Camptodac... OMIM:613458
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal OMIM:618724
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short neck, Cervic... OMIM:617396
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia, Low anterior hairline, Sparse hair, Distichiasis, Absent lower eyelashes OMIM:227260
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... OMIM:134780
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Horizontal... OMIM:108721
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... OMIM:311300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Glenoid ... ORPHA:85170
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Ventricular septal defect, Broad ribs... OMIM:300373
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly OMIM:263450
Meckel Syndrome, Type 8
Talipes equinovarus, Encephalocele, Microcephaly, Anophthalmia, Polydactyly, Postaxial hand polyd... OMIM:613885
Trisomy 18
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Intrauterine... ORPHA:3380
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, Micr... OMIM:215140
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the vertebral column, Syndact... ORPHA:294975
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery, Abnormality of the pancreas ORPHA:1203
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Acromesomelic Dysplasia 3
Carpal synostosis, Disproportionate short-limb short stature, Aplasia of the proximal phalanx of ... OMIM:609441
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Abnormality of the liver, Gastroesophageal reflux, Congenital diaphragmatic hernia,... ORPHA:1834
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Chromosome 20Q11-Q12 Deletion Syndrome
Intrauterine growth retardation, Deeply set eye, Hypertelorism, Adducted thumb, Brachydactyly, Fi... OMIM:614257
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly ORPHA:391646
Greenberg Dysplasia
Narrow chest, Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossifi... ORPHA:1426
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Talipes equinovarus, Holoprosenc... ORPHA:63259
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Pectus carinatum, Shor... OMIM:184255
Bardet-Biedl Syndrome 5
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism OMIM:615983
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Tibial Hemimelia
Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus... ORPHA:93322
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Chole... OMIM:615710
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microphthalmia OMIM:615771
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... OMIM:271665
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short distal phalanx of the thumb, Brachydactyly, Short phalanx of hallux ORPHA:2150
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Carious teeth, Genu valgum, Small epiphyses, Thoracic hypoplasia... OMIM:618363
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Rocke... OMIM:265000
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Aplasia/Hypoplasia of th... OMIM:200700
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... OMIM:616549
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Pulmonary... ORPHA:3032
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... ORPHA:79445
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Nodular goiter, Neoplasm of the l... ORPHA:142
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Upper limb undergrowth, Ca... ORPHA:439822
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Pyknoachondrogenesis
Stillbirth OMIM:265880
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Hypertelorism, Short stature, Holoprosencephaly, ... ORPHA:1908
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, P... ORPHA:1278
Desbuquois Dysplasia 2
Pectus excavatum, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Pe... OMIM:615777
Lamb-Shaffer Syndrome
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia ORPHA:530983
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... OMIM:171480
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Diastrophic Dysplasia
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... ORPHA:628
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morphology ORPHA:1277
Acrodysostosis
Spinal canal stenosis, Short toe, Accelerated skeletal maturation, Abnormal morphology of ulna, H... ORPHA:950
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger, Short stature OMIM:619033
Phenobarbital Embryopathy
Hypertelorism, Hypospadias, Microcephaly, Brachydactyly, Low-set ears, Aplasia/Hypoplasia of fingers ORPHA:1919
Achondroplasia
Rhizomelia, Thoracic hypoplasia, Short long bone, Spinal canal stenosis, Narrow greater sciatic n... ORPHA:15
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Abnormal pinna morphology, Clinodactyly of the 5th finger, Hypertelorism OMIM:612001
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Solitary Median Maxillary Central Incisor
Hypotelorism, Microcephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia OMIM:147250
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility ORPHA:2787
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Abnormal thorax morphol... OMIM:605274
Microphthalmia With Brain And Digit Anomalies
Sensorineural hearing impairment, Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplas... ORPHA:139471
Acrofacial Dysostosis, Palagonia Type
Malar flattening, Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral... OMIM:601829
Ruvalcaba Syndrome
Narrow chest, Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Scolio... ORPHA:3121
Gordon Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly of finger, Scoliosis, Limitation ... ORPHA:376
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Adducted thumb, Holoprosencephaly, Camptodactyly of finger, Hydranencephaly, Intr... ORPHA:2570
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu... ORPHA:2511
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel... OMIM:276820
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... ORPHA:1927
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Distal Monosomy 13Q
Hypertelorism, Short stature, Holoprosencephaly, Anencephaly, Abnormal metacarpal morphology, Iri... ORPHA:1590
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Tracheoesophageal fistula, Alveolar capillary dysplasia, Congenital shortened small... OMIM:265380
Pseudopseudohypoparathyroidism
Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Short meta... OMIM:612463
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
20Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism, Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly,... ORPHA:444051
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Hartsfield Syndrome
Hypertelorism, Aplasia/Hypoplasia of the radius, Split hand, Encephalocele, Intrauterine growth r... ORPHA:2117
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Hypertelorism, Median cleft palate, Short stature, Bilateral talipes equinov... OMIM:119800
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle weakness, Hand muscle atrophy OMIM:607641
Leri Pleonosteosis
Joint stiffness, Abnormality of finger, Genu recurvatum, Abnormally straight spine, Camptodactyly... ORPHA:2900
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Neonata... ORPHA:2839
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, A... ORPHA:2635
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the ankles, Micromelia, Abnormality of the humeru... ORPHA:2496
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Cyc... ORPHA:990
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Accelerated skeletal maturation, Malar flattening, Cone-shaped epiphysis, ... OMIM:614613
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Reduced bone mineral density, Scoliosis, Abnormal form of the ver... ORPHA:2370
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Paucity of ... OMIM:611890
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Multiple e... ORPHA:296
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly ORPHA:238446
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly, Proptosis, Cryptorchidism, Intrauterine growth ret... ORPHA:3303
Holoprosencephaly
Hydrocephalus, Short neck, Ventricular septal defect, Median cleft lip and palate, Proteinuria, E... ORPHA:2162
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Holoprosencephaly, Chorioretinal coloboma OMIM:611638
Salivary Duct Calculi
Parotitis OMIM:181010
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Scoliosis, Abnormal form of the vertebral bodies, D... ORPHA:1458
Hydrolethalus
Deeply set eye, Cryptorchidism, Micrognathia, Anencephaly, Low-set, posteriorly rotated ears, Arr... ORPHA:2189
Camptodactyly Syndrome, Guadalajara, Type Ii
Pectus excavatum, Talipes equinovarus, Osteopenia, Camptodactyly of finger, Short neck, Micrognat... OMIM:211920
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Brachytelephalangic Chondrodysplasia Punctata