Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Indian hedgehog
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ihh 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 predicted to be associated to Ihh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Cli... OMIM:616849
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb short stature, ... OMIM:156530
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short distal phalanx of finger, Short middle phal... ORPHA:85169
Spondyloepimetaphyseal Dysplasia, Irapa Type
Disproportionate short-limb short stature, Pectus carinatum, Short metacarpal, Hypoplastic pelvis... ORPHA:93351
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Acromesomelia, Death in infancy, Short humerus, Aplasi... OMIM:200700
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... ORPHA:2741
Schneckenbecken Dysplasia
Lateral clavicle hook, Short nose, Stillbirth, Disproportionate short-limb short stature, Narrow ... OMIM:269250
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Chondrodysplasia, Blomstrand Type
Stillbirth, Narrow chest, Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Acceler... OMIM:215045
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... ORPHA:1836
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Death in childhood, Narrow chest, Anteverted nares, Short ribs, Short long bone, Coar... OMIM:618961
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long... ORPHA:93296
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Otopalatodigital Syndrome Type 1
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... ORPHA:90650
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho... ORPHA:2634
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H... OMIM:613330
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short ribs, Short long bone, Flat acetabular roof, Hypoplastic ischia, Iliac crest serration, Del... OMIM:613320
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... ORPHA:2496
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes... OMIM:615710
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... OMIM:164900
Three M Syndrome 1
Short ribs, Pectus excavatum, Hypoplastic pelvis, Delayed skeletal maturation, Joint hypermobilit... OMIM:273750
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial de... OMIM:102510
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Single transve... OMIM:201170
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Accelerated skeletal maturation, Cone-shaped epiphys... ORPHA:950
Brachydactyly Type A1
Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi... ORPHA:93388
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac... ORPHA:1856
Thanatophoric Dysplasia, Type Ii
Narrow chest, Flared metaphysis, Short greater sciatic notch, Respiratory insufficiency, Wide-cup... OMIM:187601
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Anteverted nare... OMIM:313420
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Nar... OMIM:600972
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Abnormal autonomic nervous system physiolog... OMIM:243180
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u... OMIM:249600
Cleidocranial Dysplasia
Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morph... ORPHA:1452
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Limitation of ... ORPHA:1801
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Stipp... ORPHA:93384
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal ph... OMIM:210720
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormal enteric ganglion morphology OMIM:142623
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac... OMIM:215140
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Disproportionate short-limb short stature, Narrow chest, Metaphyseal ... ORPHA:85166
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Sho... ORPHA:3268
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Pes cavus, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irregular... OMIM:616716
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... OMIM:227270
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o... OMIM:271665
Steel Syndrome
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Antev... OMIM:615155
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm... ORPHA:2249
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Respira... ORPHA:140
Smith-Mccort Dysplasia 1
Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic acetabulae, Limitation of join... OMIM:607326
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... ORPHA:750
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Deformed humeral heads, Sh... ORPHA:2831
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Fibrochondrogenesis 2
Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh... OMIM:614524
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hypoplastic ischia, Hypoplastic pelvis, Delayed skeletal mat... ORPHA:2616
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea... OMIM:618395
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Delayed s... OMIM:210600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Neonatal short-limb short stature, Narrow ch... OMIM:224400
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Sp... ORPHA:1788
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Ruvalcaba Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow ... ORPHA:3121
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Short metacarpal, Pectus ex... OMIM:618150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short nose, Flared metaphysis, Anteverted nares, Short ribs, Decreased skull ossifica... OMIM:616897
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Flared metaphysis, Short greater sciatic notch, Narrow... OMIM:187600
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short... OMIM:166250
Pelviscapular Dysplasia
Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen... ORPHA:93333
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Anteverted nares, Stippled calcification proximal h... OMIM:222765
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Delayed skeletal maturation, Supernume... OMIM:612447
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower lim... ORPHA:56304
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Convex nasal ridge, Abnormal metaca... ORPHA:3258
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly... OMIM:600920
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Dispr... OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Disproportionate short-limb short stature, Short ribs, Short long bone, Cupped ribs, Metaphyseal ... OMIM:250420
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Respiratory insufficiency, ... ORPHA:1865
Prieto Syndrome
Retrognathia, Radial deviation of finger, 11 pairs of ribs, Osteoporosis, Coxa valga, Prominent n... OMIM:309610
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short stature, Shor... ORPHA:2491
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome... ORPHA:2632
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Van Bogaert-Hozay Syndrome
Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Depressed... OMIM:277150
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... ORPHA:440354
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Pallister-Hall-Like Syndrome
Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Short stature, Death in infancy, ... OMIM:241800
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Short 1st meta... ORPHA:93328
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Abnorm... ORPHA:50945
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Kyphomelic Dysplasia
Tibial bowing, Femoral bowing, Short metacarpal, Flat acetabular roof, Short humerus, Thoracic hy... OMIM:211350
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ... OMIM:251450
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Microcephaly-Micromelia Syndrome
Convex nasal ridge, Wide nose, Narrow chest, Oligodactyly, Missing ribs, Micromelia, Forearm unde... OMIM:251230
Campomelic Dysplasia
Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, T... OMIM:114290
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Seckel Syndrome 4
Retrognathia, 11 pairs of ribs, Steep acetabular roof, Severe short stature, Intrauterine growth ... OMIM:613676
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Growth delay, Short stature, Malar flattening, Brachydactyly, Short 5th fing... ORPHA:52056
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Disproportionate short-limb short stature, Flar... OMIM:602557
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Underdeveloped nasal alae, Short metacarpal, Radial head subluxation, Carpal s... OMIM:186400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, Camptodactyly, Prenatal death, Micrognathia, ... OMIM:618393
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia... OMIM:300863
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Disproportionate short-limb short stature, Metaphyseal c... OMIM:241500
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Delayed skeletal maturation, Hypoplasia of the capital femoral epiphysis, Hand mus... OMIM:600561
Syngnathia
Cleft palate OMIM:119550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Femoral ... OMIM:613091
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Clubbing, Tibial bowing, Short long ... OMIM:601559
Diastrophic Dysplasia
Proximal placement of thumb, Joint stiffness, Symphalangism affecting the phalanges of the hand, ... ORPHA:628
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Talipes equinovarus, Flared metaphysis, Respiratory insufficiency, Bowing of the long... OMIM:615349
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short... OMIM:256050
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology, Short stature, Wi... ORPHA:1513
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Crane-Heise Syndrome
Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormally ossified vertebrae,... ORPHA:1512
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Humeroradial synostosis,... OMIM:610017
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, J... OMIM:618167
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short ribs, Short long bone, Bowing of the long bones, Flat acetabular... OMIM:614091
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Pr... OMIM:148820
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ... ORPHA:2878
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short ribs,... OMIM:156400
Otopalatodigital Syndrome Type 2
Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Abnormal meta... ORPHA:90652
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Avascular necrosis, Talipes calcaneovarus... ORPHA:566943
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ... ORPHA:96334
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Finger syndactyly... ORPHA:958
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... ORPHA:2347
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus... OMIM:272460
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th... ORPHA:2370
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pectus excavatum, Enamel... OMIM:212780
Grant Syndrome
Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Wormian bones, Decreased skul... ORPHA:2097
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Pectus excavatum... OMIM:304120
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... ORPHA:388
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Retrognathia,... ORPHA:2756
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ... ORPHA:93308
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, 4-5 toe syndactyly, Short stature, Mild i... OMIM:308050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Pectus excavatum, Short statu... ORPHA:156728
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Ant... ORPHA:93329
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:261800
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Talon cusp, Syndactyly, ... OMIM:605282
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Death... OMIM:122860
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... OMIM:600081
Odontochondrodysplasia
Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Narrow chest, Delay... ORPHA:166272
Otoonychoperoneal Syndrome
Ankle flexion contracture, Straight clavicles, Hip contracture, Knee flexion contracture, Aplasia... OMIM:259780
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy... OMIM:274000
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Low hanging columella, Dislocated radial head, Singl... OMIM:619297
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Femoral bowing, Short me... ORPHA:95699
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, Short stature, Broad nasal tip, Syndactyly, Short tibia OMIM:300484
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:184260
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Finger ... ORPHA:3320
Lethal Recessive Chondrodysplasia
Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Accelerated skeletal maturati... ORPHA:1423
Omodysplasia 1
Disproportionate short-limb short stature, Limited knee extension, Short humerus, Fibular hypopla... OMIM:258315
Muenke Syndrome
Cone-shaped epiphysis, Tarsal synostosis, Coronal craniosynostosis, Short palm, Malar flattening,... ORPHA:53271
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Death in childhood, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndact... OMIM:616809
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Thick nasal alae, Micrognathia, Malar flattening, Clinodactyly ORPHA:357175
Ellis-Van Creveld Syndrome
Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Disproportionate short-limb ... OMIM:225500
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Single transverse palmar crease, Areflexia of lower limbs, Hand... OMIM:611890
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microg... ORPHA:217340
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar... OMIM:102370
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate OMIM:304100
Achondrogenesis Type 1B
Short nose, Narrow chest, Short thorax, Anteverted nares, Abnormal enchondral ossification, Micro... ORPHA:93298
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Tapered finger, Easily subluxated... OMIM:311895
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Synostosis of carpal bo... ORPHA:710
Acromicric Dysplasia
Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Joint stiffness, Short... ORPHA:969
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Thick nasal alae, Micrognathia, Malar flattening, Clinodactyly OMIM:615162
Jejunal Atresia
Jejunal atresia OMIM:243600
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Delayed skeletal mat... OMIM:224690
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Vitamin D-Dependent Rickets, Type 2A
Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R... OMIM:277440
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st... ORPHA:988
Cooper-Jabs Syndrome
Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Respirat... ORPHA:1488
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Mandibular prognathia, Short ribs, Split hand, Limitation of joint mobili... OMIM:252600
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Long thorax, Micrognathia, Mesomelia, Brachydactyly, Convex nasal r... ORPHA:1277
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Anterior... ORPHA:1426
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ... OMIM:173800
Achondrogenesis Type 1A
Short nose, Narrow chest, Short thorax, Recurrent fractures, Anteverted nares, Abnormal enchondra... ORPHA:93299
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Short middle phalanx of the 5th finger, Abnormal epiphysis morphology, Short ... ORPHA:63442
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Enterocolitis, Vol... ORPHA:95427
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Respiratory insufficiency, Short ribs, Elbow flexion contracture, Cupp... ORPHA:1145
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Narrow chest, Anteverted nares, Thin ribs, Femoral bowi... OMIM:618188
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Barrel-shaped chest, Pectus carinatum,... OMIM:178110
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Disproportionate short-... OMIM:166210
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Short distal phalanx of ... OMIM:218330
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, Narrow chest... ORPHA:474
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Short nose, Abnormal bone ossification, Abnormal femoral neck/hea... ORPHA:163649
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavatum, Short humeru... OMIM:309350
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang... OMIM:252500
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Acrocephalopolydactyly
Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Thoracic h... ORPHA:221054
Short-Rib Thoracic Dysplasia 12
Short ribs, Short long bone, Intrauterine growth retardation, Short finger, Short thorax, Short p... OMIM:269860
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Disproportiona... OMIM:222600
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials OMIM:600501
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Trident hand, Short nasal br... ORPHA:15
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... OMIM:143095
Atelosteogenesis Type Iii
Short tubular bones of the hand, Thoracic hypoplasia, Absent radius, Patellar dislocation, Hip di... ORPHA:56305
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Weaver Syndrome
Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip... OMIM:277590
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost... OMIM:187760
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del... OMIM:241530
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... OMIM:611263
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Broad nasa... ORPHA:2804
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Respiratory insufficiency, Anteverted nares, Synostos... ORPHA:3191
Codas Syndrome
Pes valgus, Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Anteverted nares... OMIM:600373
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnormal dental enam... ORPHA:1005
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg... OMIM:249710
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Absent sternal ossification, Tracheomalacia, Aplasia/Hy... OMIM:613803
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short nose, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifid... OMIM:617877
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Camptodactyly of finger, Aplasia/Hypoplasia of the di... ORPHA:1113
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnormal nasopharynx ... OMIM:607323
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Femoral retroversion, Micromelia, Short stature, Hypoplastic scapulae ORPHA:79107
Slc35A2-Cdg
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi... ORPHA:356961
Waardenburg Syndrome Type 3
Tracheomalacia, Narrow nasal bridge, Abnormal finger morphology, Abnormality of the upper limb, S... ORPHA:896
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Bowing of the long bones, Osteop... OMIM:239000
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
L1 Syndrome
Aganglionic megacolon, Skeletal muscle atrophy ORPHA:275543
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh... OMIM:617974
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Accelerated skeletal maturation, Flattened epiphysis, Thoracic hypoplasia, Joint... OMIM:618363
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon ORPHA:897
Poland Syndrome
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab... ORPHA:2911
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Pectus excavatum, Flared iliac wing, Micromelia, Ab... ORPHA:63446
Apert Syndrome
Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosynostosis, Postaxial ha... OMIM:101200
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Short stature, Carious teeth, Micro... ORPHA:96097
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Sever... ORPHA:2307
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Mesomelic short stature, Metacarpal sy... OMIM:600383
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Hypochondroplasia
Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Aplasia/hy... OMIM:146000
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Narrow chest, Thin ribs, Elbow flexion contract... OMIM:200980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Interphalangeal thumb joint contracture, Abnormal aut... OMIM:613870
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruptio... OMIM:606893
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Cam... ORPHA:1323
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Short palm, Failure of eruption of permanent teeth, Severe short stat... ORPHA:3238
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Bowing of the long bones, Joint stiffness, Sprengel anomaly, Brac... ORPHA:40
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Bowed humerus, Narrow chest, Short long bone, Short hu... OMIM:619479
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short... ORPHA:3003
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Wide nose, Short ribs, Short humerus, Recurrent... OMIM:607143
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Narrow chest, Squared iliac bones, Hypoplastic pubic ... ORPHA:2746
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilateral talipes equino... OMIM:618022
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Limitation of joint mobility, ... OMIM:151200
Ullrich Congenital Muscular Dystrophy
Pes valgus, Elbow flexion contracture, Slender finger, Respiratory failure, Micrognathia, Wrist h... ORPHA:75840
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Short nose, Lambdoidal craniosynostosis, Anteverted nares, Pe... OMIM:615398
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Narrow chest, Underdeveloped nasal al... OMIM:180870
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hypermobility, Short distal phalanx of finger, Brachydactyly, Osteoporosis ORPHA:2787
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Long clavicles, Bell-shaped thorax, Early ossification of capital femo... ORPHA:397715
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Finger syndactyly, Split hand, Abnormal rib morphology, Micromeli... ORPHA:2145
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio... ORPHA:177
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Boomerang Dysplasia
Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Severe short s... OMIM:112310
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Abnormal pelvic girdle bone morphology, Abnormal rib morp... ORPHA:1988
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ... OMIM:210710
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Wi... ORPHA:2319
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... OMIM:304150
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Anteverted nares, Delayed cranial suture closure, Mandibular aplasia, D... ORPHA:1832
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Increased upper to lower segment ratio, Flattened proximal radial ... OMIM:271530
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Short stature, Absent thumb, Ra... OMIM:614900
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Short ph... OMIM:614613
Thoracopelvic Dysostosis
Short stature, Neonatal respiratory distress, Short ribs OMIM:187770
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Short humerus, Mesomelia, A... ORPHA:3404
Glycosylphosphatidylinositol Biosynthesis Defect 11
High palate, Tented upper lip vermilion, Umbilical hernia, Macroglossia, Elevated circulating alk... OMIM:616025
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation... OMIM:218600
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Elevated circulating alkaline phosphatase concentration, Thin upper lip vermilio... OMIM:618879
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... ORPHA:246
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Short long bone, S... ORPHA:457395
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Spina bifida occulta, Single transverse palmar crease, Arthrogryposis multiplex c... OMIM:618291
Laron Syndrome
Short long bone, Delayed menarche, Delayed skeletal maturation, Limb undergrowth, Severe short st... OMIM:262500
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Retrognathia, Abnormal metacarpal morphology, Abnormal hip bone m... ORPHA:2631
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Respiratory insufficiency, Anteverted nares, Elbow flexion contracture, Calcane... OMIM:616266
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... ORPHA:2438
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib ... ORPHA:1354
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Hammertoe, Bell-shaped thorax, Tracheomalacia, Resp... OMIM:608022
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Short stature, Limb undergrowt... ORPHA:2204
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped... OMIM:307800
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Abnormal foot mor... OMIM:263750
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Decreased testicular size, Cleft palate, Intrauter... ORPHA:85284
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis, Carpal synostosis ORPHA:2010
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Pectus excavatum, A... OMIM:618870
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Seve... ORPHA:168555
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of... OMIM:117650
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Hallermann-Streiff Syndrome
Supernumerary tooth, Reduced bone mineral density, Clinodactyly of the 5th finger, Tracheomalacia... ORPHA:2108
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Abnormality o... OMIM:300244
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Cubitus valgus, Narrow chest, Dental malocclusion, Anteverted nares, Pectus carinatum... ORPHA:1327
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Achondrogenesis
Short nose, Narrow chest, Short thorax, Abnormality of bone mineral density, Anteverted nares, Ab... ORPHA:932
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Osteoporosis, Bilateral talipes equinovarus, Supernumerary ribs, Prominent nose, Fi... ORPHA:2958
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Orofaciodigital Syndrome X
Fibular aplasia, Retrognathia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Orofaciodigital Syndrome Ix
Bifid nasal tip, Camptodactyly, Short stature, Hand polydactyly, Broad nasal tip, Toe syndactyly,... OMIM:258865
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Overlapping toe, Clinodact... ORPHA:221120
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Short stature, Delayed skeletal ... OMIM:608154
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Disproporti... ORPHA:1507
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax, Disproportionate short-limb short stature OMIM:273740
Hyperekplexia 4
Camptodactyly, Respiratory failure, Flexion contracture, Distal arthrogryposis, Adducted thumb, T... OMIM:618011
Catel-Manzke Syndrome
Low insertion of columella, Pectus carinatum, Short metacarpal, Pectus excavatum, Ulnar deviation... OMIM:616145
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T... OMIM:266920
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, Limitation of ... ORPHA:3098
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Long nose, Abnormal zygomatic bone morphology, Clinodactyly of t... ORPHA:2769
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeleta... ORPHA:93307
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Exocrine pancreatic insufficiency, Cryptorchidism ORPHA:452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Neonatal inspiratory stridor, Slender metacarpals, Metaphyseal irregu... ORPHA:93360
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short st... OMIM:163400
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon ORPHA:1438
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Short statu... OMIM:618392
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Tibial Hemimelia