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
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... OMIM:616849
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respiratory insuffi... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... ORPHA:93351
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Ulnar Hemimelia
Radial club hand, Short forearm, Elbow pain, Limited shoulder movement, Duplication of phalanx of... ORPHA:93320
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Multiple Epiphyseal Dysplasia With Robin Phenotype
Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,... OMIM:601560
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Squared iliac bones, Advanced tarsal ossification, Stillbirth, G... OMIM:215045
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, Depressed nasal ... OMIM:228520
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal... OMIM:615710
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Short nos... OMIM:200600
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Short nose, Narrow chest, Anteverted nares, Limb undergrowth, Short ribs, Co... OMIM:618961
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carpal bones, Hyp... ORPHA:90650
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Accelerated skeletal maturation, Craniosynostosis, Short phalanx of finger, ... OMIM:250215
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Duodenal Atresia
Duodenal atresia, Abnormality of the pancreas, Annular pancreas ORPHA:1203
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis mor... ORPHA:1842
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Multinucleated giant chondrocytes in epiphysea... OMIM:108720
Thoracomelic Dysplasia
Genu valgum, Disproportionate short-limb short stature, Narrow chest, Elbow dislocation, Joint hy... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Abnormality of the metacarpal bones, Joint stiffne... ORPHA:2496
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Elbo... ORPHA:2634
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Disproportionate short-limb short s... OMIM:600121
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elb... OMIM:171480
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Rhizomelic Chondrodysplasia Punctata, Type 2
Disproportionate short stature, Anteverted nares, Stippled calcification proximal humeral epiphys... OMIM:222765
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Dyggve-Melchior-Clausen Disease
Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Pes pla... OMIM:223800
Three M Syndrome 1
Joint hypermobility, Pes planus, Mandibular prognathia, Postnatal growth retardation, Spina bifid... OMIM:273750
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... OMIM:201250
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Anteverted nares, Pectus carinatum, Short finger, Hyperextensibility of the fing... OMIM:313420
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... OMIM:114290
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomelia, Flattene... ORPHA:166016
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Wide anterior fontanel, Wide ... OMIM:201170
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Growth ... OMIM:616716
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Thanatophoric Dysplasia, Type Ii
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Shor... OMIM:187601
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Cleidocranial Dysplasia
Wormian bones, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Narrow chest, Mandi... ORPHA:1452
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Shor... OMIM:187600
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Disproportionate short stature, Narrow... ORPHA:1801
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... OMIM:164745
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Achondrogenesis, Type Ib
Stillbirth, Narrow chest, Hypoplastic ilia, Short ribs, Respiratory insufficiency, Absent or mini... OMIM:600972
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Disproportionate short stature, Joint laxity, Metaphyseal irregularity, Cen... OMIM:602557
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Platyspondylic Dysplasia, Torrance Type
Short thorax, Disproportionate short-limb short stature, Narrow chest, Hypoplastic pelvis, Hypopl... ORPHA:85166
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology OMIM:142623
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Postnatal growth retardation, Short distal phalanx of finger, Ul... OMIM:210720
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Rhizomelia, Hypoplastic scapulae, Flexion cont... OMIM:602471
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Respiratory insufficiency, Pathologic... OMIM:601559
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Acrodysostosis
Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Mandibular prognathia, A... ORPHA:950
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Narrow chest, Respiratory insufficiency, Small abnormally for... ORPHA:140
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow chest, Anteverted nares, Wid... ORPHA:2021
Eiken Syndrome
Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Delayed epiphysea... OMIM:600002
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Short dista... OMIM:311300
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Short nose, Growt... OMIM:206920
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Sandal gap, ... OMIM:215140
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Severe ... OMIM:151210
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Rhizomelia, Mandibular pr... ORPHA:2831
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Smith-Mccort Dysplasia 1
Genu valgum, Multicentric femoral head ossification, Prominent sternum, Short phalanx of finger, ... OMIM:607326
Multiple Osteochondromas
Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the metaphysis, Ost... ORPHA:321
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Short statu... ORPHA:3268
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Nar... ORPHA:1263
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification, Flared il... OMIM:271665
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Bell-shaped thorax, Short long bone, Coxa v... OMIM:611702
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, M... OMIM:616897
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Abnormal scapula morph... ORPHA:2141
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Wormian bones, Short nose, Narrow chest, Metaphyseal cupping, Bell-shaped th... OMIM:613320
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Seckel Syndrome 1
Enamel hypoplasia, Proportionate short stature, Pes planus, Postnatal growth retardation, Sandal ... OMIM:210600
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Duodenal stenosis, Congenital diaphragmatic hernia, I... ORPHA:2470
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Stillbirth, Broad long bones, Hypoplastic iliac wing, ... OMIM:200610
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... OMIM:612447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Joint laxity, Metaphyseal irregularity, Carpa... OMIM:618395
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Broad phalanges of ... OMIM:305620
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Radial deviation of finger, Clinodactyly, 11 pairs of ribs, T... OMIM:309610
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
3M Syndrome
Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Bulbous nose, Abn... ORPHA:2616
Ruvalcaba Syndrome
Convex nasal ridge, Abnormality of vertebral epiphysis morphology, Short nose, Narrow chest, Syno... ORPHA:3121
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Narrow chest, Hypoplastic frontal sinuses, Persistent open ante... OMIM:119600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Microcephaly-Micromelia Syndrome
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Craniosynostosis, Narrow chest, Intrau... OMIM:251230
Otofacioosseous-Gonadal Syndrome
Short hallux, Genu valgum, Wormian bones, Narrow chest, Underdeveloped nasal alae, Pectus excavat... OMIM:601976
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Dislocated radial hea... OMIM:260660
Hypophosphatasia, Infantile
Apnea, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Metaphyseal cupping, Death... OMIM:241500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... ORPHA:440354
Cenani-Lenz Syndrome
Oligodactyly, Convex nasal ridge, Hypoplasia of the radius, Abnormal dental enamel morphology, To... ORPHA:3258
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Autosomal Dominant Omodysplasia
Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Malar flattening,... ORPHA:93328
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Aganglionic megacolon, Asplenia, Anal atresia, Volvulus, Absent gallbladd... ORPHA:210122
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Joint laxity, Anteverted nares, Cone-shaped epiphysis, Rib fusion, Short foot,... OMIM:157800
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Sprengel anomaly, Aplasia/Hypoplasia... ORPHA:1788
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Narrow fo... OMIM:600920
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Equinovarus deformity, Narrow chest, Camptodactyly, Broad long bones, Bowing of the long bones, A... OMIM:224400
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased susceptibility t... OMIM:224300
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Narrow chest, Natal tooth, Increased bone mineral density, Aplas... ORPHA:50945
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Disproportionate shor... OMIM:250420
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
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Narrow chest, Phalangeal dislocation, Broad first metatarsal, Pes... OMIM:251450
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Depressed... OMIM:277150
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Talipes, Elbow ankylosis,... ORPHA:2557
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Narrow chest, Death in infancy, Horizontal rib... OMIM:208500
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... OMIM:609052
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Ulnar deviation of the hand, Micrognathia, Depressed nasal bridge, Hypoplasia o... OMIM:602613
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Lateral clavicle hook, Respiratory distress, Narrow chest, Thoracic hyp... OMIM:617895
Fibrochondrogenesis 2
Short nose, Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, S... OMIM:614524
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Malar flattening, Fibular hypoplasia, Short stature, Lowe... OMIM:608571
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respira... OMIM:228940
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Underdeveloped nasal a... OMIM:186400
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Ankle clonus, Hand muscle atrophy, Respiratory failure, Short stature, Delayed skel... OMIM:600561
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon OMIM:304100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Narrow greater sciatic notch, ... OMIM:617925
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplast... OMIM:300863
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Pe... OMIM:142900
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Narrow chest, Elbow dislocation, Flared iliac wing, Hypoplastic frontal sinuse... ORPHA:90652
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short hallux, Short metatarsal, Hallux varus, Hitchhiker thumb, Short distal phalanx of finger, S... OMIM:112450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... OMIM:614091
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Death in infancy, Short ribs, Pulmonary hypoplasia, Depre... OMIM:241800
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Aplasia/hypoplasia of the extr... OMIM:146000
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Wide na... ORPHA:2256
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Abnormal... ORPHA:1512
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Seckel Syndrome 4
Steep acetabular roof, Underdeveloped nasal alae, Intrauterine growth retardation, Short stature,... OMIM:613676
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Wide nasal bridge, Short stature, Abnormality of the ribs, Diaphyseal ... ORPHA:1513
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Abnormal thorax mo... OMIM:605274
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Mandibular prognathia, Wide nasal bridge, Clinodactyly... OMIM:148820
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydacty... OMIM:613091
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Joint laxity, Pectus excavatum, Flared metaphysis, Carpal ... OMIM:615349
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Narrow chest, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypop... ORPHA:1865
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Choanal stenosis, Bowing of the long bones, Me... OMIM:156400
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Respiratory distress, Narrow chest, Flared elbow metaphyses, Gen... ORPHA:1423
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Polydactyly, Syndactyly, Hypoplasia of the epiglottis, Short stat... OMIM:300484
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death in infancy, ... OMIM:184260
Muenke Syndrome
Broad thumb, Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalan... OMIM:602849
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Pe... ORPHA:958
Diastrophic Dwarfism
Elbow dislocation, Respiratory insufficiency, Abnormality of the metacarpal bones, Increased bone... ORPHA:628
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, Flexion cont... OMIM:618291
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... OMIM:274000
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Lateral clavicle hook, Disproportionate short-limb short stature... ORPHA:3144
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontan... ORPHA:2347
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Broad thumb, Tarsal synostosis, Elbow dislocation, Death in infancy... ORPHA:1106
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Narrow chest, Square pelvis bone, Respiratory distress, Jo... ORPHA:166272
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Mandibula... ORPHA:96334
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Pectus carinatum, Flattened proximal radial epiphyses, Short long bone, Dispro... OMIM:271530
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Neonatal short-limb short stature, Hypoplasia of the ulna, Disproportionate s... OMIM:191400
Metatropic Dysplasia
Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narrow chest, A... ORPHA:2635
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Abnormality of the metacarpal bones, Intrauterine growth retardation, ... ORPHA:2370
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Abnormality of th... ORPHA:2878
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Metatarsus adduct... OMIM:271640
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Narrow chest, Short ribs, Thin ribs, Osteopenia, Femoral bowing OMIM:618188
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... OMIM:156230
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited elbow extension, Dislocated radial head, Radioulnar synostosis OMIM:179300
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplasia, Mandibu... OMIM:252600
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Tarsal synostosis, Pes planus, C2-C3 subluxation, Limited elbow extension, Tal... OMIM:272460
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Areflexia of lower limbs, Arthrogryposis multiplex congenita, ... OMIM:611890
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Feingold Syndrome
Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Annular pancreas ORPHA:1305
Distal Symphalangism
Camptodactyly of finger, Joint stiffness, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short m... OMIM:605282
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Straight clavicles, Hip contracture, ... OMIM:259780
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Omodysplasia 1
Anterolateral radial head dislocation, Increased fibular diameter, Pulmonary artery stenosis, Mic... OMIM:258315
Achondrogenesis Type 1B
Short thorax, Disproportionate short stature, Short nose, Narrow chest, Abnormal enchondral ossif... ORPHA:93298
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... ORPHA:388
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Flat acetabular roof, Pathologic fracture,... OMIM:252500
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Carpal synostosis, Malar flattening, Corona... ORPHA:53271
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... OMIM:222600
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Cholestasis, V... ORPHA:95427
Orofaciodigital Syndrome V
Bifid uvula, Aganglionic megacolon, Lobulated tongue, Cleft palate OMIM:174300
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Heyn-Sproul-Jackson Syndrome
Broad phalanx, Short phalanx of finger, Broad metacarpals, Short metacarpal OMIM:618724
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Thoracic hypoplasia, Pectus excavatum, Limb undergrowth... ORPHA:156728
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Synostosis of carpals/tarsals, Coales... OMIM:301940
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Camptodactyly, Natal tooth, Spina bifida occulta, Mic... OMIM:300373
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia,... OMIM:617866
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, Short 5th finger OMIM:300577
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Short clavicles, Spina bifida... OMIM:169550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Craniosynostosis, Short phalanx of finger, Cone-shaped epiphysis, Short ribs, Short stature, Shor... OMIM:266920
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Prominent sternum, Hypoplastic pelvis, ... OMIM:304950
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Short nose, Elbow dislocation, Rhizomelia, Abnormali... ORPHA:93329
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Micrognathia, Sandal gap, Malar flattening, Delayed puberty, Clinodac... ORPHA:217340
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Tubular metacarpal bones, Spin... OMIM:211910
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Thick nasal alae, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening, Wide nose ORPHA:357175
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Achondrogenesis Type 1A
Short thorax, Short nose, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Se... ORPHA:93299
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex congenita, Pectu... OMIM:178110
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... OMIM:177170
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Knee pain... ORPHA:93308
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Short foot, Fifth metacarpal with ulnar notch, Sh... OMIM:102370
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Broad ribs, Rhizomelia, Short humerus, Short ribs, Short clavicles, Shor... OMIM:610319
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Neonatal short-limb short stature, ... OMIM:225500
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp... OMIM:309350
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... ORPHA:1350
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Lower limb undergrowth, Joint stif... OMIM:127200
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Severe short stature,... OMIM:250460
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Short stature, Dela... OMIM:601561
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Lateral clavicle hook, Postaxial hand polydactyly, Thoracic hypoplasia, Bell-shaped ... OMIM:615630
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Tarsal synostosis, Bulbous nose, Narrow chest, Choanal stenosis, Camptodactyly,... ORPHA:95699
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormality of th... OMIM:602196
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Birth length less than 3rd ... OMIM:224690
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormality of epiphysis morphology, Hip osteoarthritis, Short middle phalanx of f... ORPHA:63442
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Inspiratory stridor, Cone-shaped epiphysis, Osteoarthritis, Small hand, Delayed epiph... OMIM:618618
Fibrodysplasia Ossificans Progressiva
Short hallux, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossification in musc... OMIM:135100
Acromicric Dysplasia
Abnormality of femur morphology, Bulbous nose, Anteverted nares, Abnormality of epiphysis morphol... ORPHA:969
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Congenital Disorder Of Glycosylation, Type Ig
Respiratory tract infection, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sa... OMIM:607143
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Short foot, Wide nasal bridge, Short stature, Short metacarpa... OMIM:614078
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Mental Retardation, Autosomal Recessive 35
Thick nasal alae, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening, Wide nose OMIM:615162
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Meier-Gorlin Syndrome 3
Narrow chest, Birth length less than 3rd percentile, Bronchomalacia, Micrognathia, Hypoplasia of ... OMIM:613803
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, Osteoporosis, Broa... OMIM:218330
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Genu valgum, Short thorax, Disproportionate short stature, Cario... OMIM:618363
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Pectus excavatum, ... OMIM:614399
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Choanal stenosis, Craniofacial hyperostosis, Mandibular progn... OMIM:122860
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteverted nares, Joint hyperflexibility, Respiratory insufficiency, Mal... ORPHA:1488
Jejunal Atresia
Jejunal atresia OMIM:243600
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, L... ORPHA:15
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical b... ORPHA:2790
Atelosteogenesis Type Iii
Laryngotracheomalacia, Elbow dislocation, Respiratory insufficiency, Club-shaped distal femur, Ab... ORPHA:56305
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Bell-shap... OMIM:187760
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Pes planus, Camptodactyly, Agenesis o... OMIM:311450
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Tapered finge... OMIM:311895
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hypoplastic p... OMIM:308050
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Camptodactyly, Short toe, Hip dislocation, Tapered finger, Proximal plac... OMIM:613458
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dysplasia, Short ... OMIM:268305
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Sho... ORPHA:988
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Subaortic Stenosis-Short Stature Syndrome
Abnormal vocal cord morphology, Synostosis of carpal bones, Bilateral single transverse palmar cr... ORPHA:3191
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... OMIM:255980
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Growth delay, Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short s... ORPHA:52056
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Mandibular prognathia,... ORPHA:710
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Renal Dysplasia-Limb Defects Syndrome
Convex nasal ridge, Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Short sternu... OMIM:266910
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow dislocation, Pes ... OMIM:143095
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Bone Dysplasia, Lethal, Holmgren Type
Narrow chest, Bell-shaped thorax, Short ribs, Respiratory insufficiency, Short stature OMIM:211120
Parana Hard Skin Syndrome
Pectus carinatum, Growth delay, Restricted chest movement, Respiratory insufficiency, Short statu... ORPHA:2812
Codas Syndrome
Enamel hypoplasia, Genu valgum, Squared iliac bones, Delayed eruption of teeth, Short phalanx of ... OMIM:600373
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Mesomelia, Long thorax, Abnormal shoulder morphology, Micrognathia, Brachydac... ORPHA:1277
Kinsship Syndrome
Dislocated radial head, Respiratory arrest, Bulbous nose, Polydactyly, Supernumerary ribs, Pes pl... OMIM:619297
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Aphalangy of the hands,... OMIM:218600
Weaver Syndrome
Accelerated skeletal maturation, Broad thumb, Camptodactyly, Mandibular prognathia, Metatarsus ad... OMIM:277590
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow chest, Spl... OMIM:200980
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Horizontal ribs, Respiratory insufficiency, Bowing of the legs, Broad ... OMIM:269860
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Sho... ORPHA:163649
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Synostosis of carpal bones, Finger syndactyly, Short middle ph... ORPHA:1005
Acrocephalopolydactyly
Short nose, Genu recurvatum, Thoracic hypoplasia, Limb undergrowth, Short long bone, Depressed na... ORPHA:221054
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short thorax, Carious teeth, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... OMIM:617102
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Narrow chest, Abnormality of epiphysis morphology, ... ORPHA:2746
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Aplasia/Hypoplasia involving bones of the thorax, Short digit, Micrognathi... ORPHA:397715
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Tracheomalacia, Atele... ORPHA:896
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged... OMIM:210710
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Narrow chest, Abnormality of epiphysis mor... ORPHA:93267
Greenberg Dysplasia
Abnormal bone ossification, Severe short-limb dwarfism, Narrow chest, Rhizomelia, Anterior rib pu... ORPHA:1426
Metaphyseal Acroscyphodysplasia
Accelerated skeletal maturation, Abnormality of femur morphology, Depressed nasal ridge, Bowing o... ORPHA:1240
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Short nose, Respiratory distress, Delayed cranial suture closure, Re... ORPHA:1832
Ulbright-Hodes Syndrome
Postnatal growth retardation, Birth length less than 3rd percentile, Large beaked nose, Phocomeli... ORPHA:3404
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic... OMIM:608728
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Sho... OMIM:615503
Acrocapitofemoral Dysplasia
Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short palm, Pectus excavatum, Co... ORPHA:63446
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Narrow chest, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Sh... OMIM:611263
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge OMIM:218650
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Fifth... ORPHA:2839
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Distal Trisomy 5Q
Hypoplasia of the radius, Craniosynostosis, Carious teeth, Short nose, Hypoplasia of the ulna, Sh... ORPHA:96097
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Respiratory distress, Short ribs, Respiratory insufficiency, ... ORPHA:1145
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint hypermobilit... ORPHA:356961
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Abnormal hip bone morphol... ORPHA:1323
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Synostosis of carpal bones, Severe short stature, Brachyd... ORPHA:3238
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Short nose, Pectus excavatum, Hypoplasia of the ulna, Ankle clonus, Osteopenia, Ant... OMIM:615398
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Short nose, Sprengel anomaly, Preaxial foot po... ORPHA:1988
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Intrauterine gro... ORPHA:2145
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Roberts Syndrome
Craniosynostosis, Underdeveloped nasal alae, Bilateral single transverse palmar creases, Sandal g... ORPHA:3103
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Poland Syndrome
Absent hand, Split hand, Abnormal sternum morphology, Unilateral brachydactyly, Spina bifida occu... ORPHA:2911
Kniest-Like Dysplasia, Lethal
Lethal short-limbed short stature, Broad ribs, Metaphyseal irregularity, Narrow chest, Short diap... OMIM:245190
Waardenburg-Shah Syndrome
Aganglionic megacolon, Abnormal intestine morphology, Intestinal obstruction ORPHA:897
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Disproportionate short stature, Broa... OMIM:609616
L1 Syndrome
Aganglionic megacolon, Skeletal muscle atrophy ORPHA:275543
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Malabsorption, Aganglionic megacolon, Exocrine pancreatic insufficiency ORPHA:452
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Epiphyseal Dysplasia, Multiple, 7
Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral n... OMIM:617719
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Externally rotated hips, Death in early adulthood, Short stature, Micromelia ORPHA:79107
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, J... ORPHA:93387
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Poorly ossified vertebrae... ORPHA:3003
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Convex nasal ridge, Broad ribs, Narrow chest,... OMIM:304150
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with na... OMIM:608154
Boomerang Dysplasia
Underdeveloped nasal alae, Severe short stature, Wide nasal bridge, Hypoplastic nasal septum, Neo... OMIM:112310
Anauxetic Dysplasia 1
Disproportionate short stature, Delayed ossification of carpal bones, Hypoplastic ilia, Short fin... OMIM:607095
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Convex nasal ridge, Radioulnar synostosis, Meso... OMIM:617604
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Bone pain, Postnatal growth retardation, Rachitic rosary, Increased susceptibi... ORPHA:289157
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Narrow chest, Hypoplastic pelvis, Microretrognathia, ... OMIM:616300
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Flattened femo... ORPHA:93284
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Pe... ORPHA:457395
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Narrow chest, Respiratory insufficiency, Distal arthrogryposi... OMIM:208081
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... OMIM:249710
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Bowing of the lo... ORPHA:2631
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly, Camptodactyly, Hypoplasia of th... OMIM:258865
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Narrow chest, Underdeveloped ... OMIM:180870
Duane-Radial Ray Syndrome
Choanal stenosis, Pes planus, Choanal atresia, Sandal gap, Absent radius, Short thumb, Spina bifi... OMIM:607323
Ondine Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Joint hyperflexibility, Sprengel anomaly, Bowing of the long bone... ORPHA:40
Diaphanospondylodysostosis
Short thorax, Respiratory distress, Enlarged thorax, Absent or minimally ossified vertebral bodie... ORPHA:66637
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Polydactyly, Short ribs, Short long bone, Short stature, Brachydactyly OMIM:613819
Hypochondroplasia
Short toe, Sleep apnea, Childhood onset short-limb short stature, Joint hyperflexibility, Abnorma... ORPHA:429
Laurin-Sandrow Syndrome
Tarsal synostosis, Underdeveloped nasal alae, Abnormality of the metacarpal bones, Absent radius,... ORPHA:2378
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Short metatarsal, Short phalanx of finger, Short finger, Short metacarpal, Avascular ... OMIM:190351
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Missing ribs, Pseudoarthrosis, Short ribs OMIM:618155
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, Limb undergr... ORPHA:177
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Femoral-Facial Syndrome
Short fifth metatarsal, Underdeveloped nasal alae, Limited shoulder movement, Micrognathia, Preax... OMIM:134780
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Bulbous nose, Growth delay, 2-3... OMIM:616809
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankles, Tarsal synostosis, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Joint hyperflexibility, Long palm, Choanal atresia, Wide nasal bri... ORPHA:2759
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... ORPHA:2319
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon OMIM:613603
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Osteoarth... ORPHA:1427
Achondrogenesis
Short thorax, Short nose, Narrow chest, Abnormal enchondral ossification, Severe short stature, A... ORPHA:932
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Accelerated skeletal maturation, ... ORPHA:1425
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow pala... OMIM:601095
Diaphanospondylodysostosis
Short nose, Respiratory distress, Thoracic hypoplasia, Bell-shaped thorax, Tracheomalacia, Hammer... OMIM:608022
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Flexion contracture, Hyperextensibility at wrists, Adducted thumb, Pes valgus, Incr... ORPHA:75840
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Cerebrocostomandibular Syndrome
Anomalous tracheal cartilage, Congenital hip dislocation, Thoracic hypoplasia, Bell-shaped thorax... OMIM:117650
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Abnormality of the ribs, Disproportionate short stature, Narrow ... ORPHA:1354
Acrofacial Dysostosis 1, Nager Type
Absent radius, Triphalangeal thumb, Micrognathia, Hypoplasia of first ribs, Hallux valgus, Limite... OMIM:154400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Contractures of the interphalangeal joint of the thumb, Abnormal autonomic... OMIM:613870
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Peg-lik... OMIM:300232
Melnick-Needles Syndrome
Narrow chest, Respiratory insufficiency, Short distal phalanx of finger, Short clavicles, Abnorma... ORPHA:2484
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Thoracopelvic Dysostosis
Neonatal respiratory distress, Short stature, Short ribs OMIM:187770
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Pectus excavatum, Gr... OMIM:263750
Bresek Syndrome
Cryptorchidism, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Intrauterine growth ... ORPHA:85284
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Finger clinodactyly, Bilateral talipes equinovarus, Retrognat... ORPHA:2958
Mesomelia-Synostoses Syndrome
Convex nasal ridge, Microretrognathia, Metacarpal synostosis, Mesomelic short stature, Mesomelia,... OMIM:600383
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Pectus excavatum, Limb undergrowth, Short stature, Brachy... OMIM:122900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Mesomelic short stature, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Short nose, Rhizomelia, Thoracic hypoplasia, Delayed s... ORPHA:168549
Smith-Mccort Dysplasia 2
Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, Broad metatarsa... OMIM:615222
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Prominent sternum, Obstructive sleep apnea, Short nose, Pectus excavatum, Short 5th metacarpal, S... OMIM:617877
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short ... ORPHA:168555
Hyperekplexia 4
Camptodactyly, Flexion contracture, Distal arthrogryposis, Respiratory failure, Talipes equinovar... OMIM:618011
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... OMIM:300244
Metacarpal 4-5 Fusion
Fused fourth and fifth metacarpals OMIM:309630
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Laron Syndrome
Severe short stature, Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed skele... OMIM:262500
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Camptodactyly of finger, Scapular winging, Toe syndactyly, Short nose, Narrow che... ORPHA:1327
Nail-Patella Syndrome
Pes planus, Iliac horns, Antecubital pterygium, Quadriceps aplasia, Hypoplasia of first ribs, Lim... OMIM:161200
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Delayed ossification of carpal bones, Metaphyseal dysplasia, Short sta... OMIM:617974
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Barrel-s... OMIM:276820
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, Laryngotrach... ORPHA:93360
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Small epiphyses, D... OMIM:611717
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Mic... ORPHA:246
Acromesomelic Dysplasia, Hunter-Thompson Type
Severe short-limb dwarfism, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abno... ORPHA:968