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 distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Disproport... OMIM:156530
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu valgum, Abnormal e... ORPHA:93351
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Acromesomelic Dysplasia 2A
Stillbirth, Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplas... OMIM:200700
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhiz... OMIM:601560
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Increased upper to lower segment ratio, Upper limb... ORPHA:168549
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... OMIM:613330
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Fibrochondrogenesis 1
Depressed nasal bridge, Rhizomelia, Short nose, Posterior rib cupping, Dumbbell-shaped long bone,... OMIM:228520
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... ORPHA:2741
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... OMIM:215045
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate s... OMIM:269250
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Short ribs, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Brach... OMIM:618961
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Hypoplastic sacrum, Osteoarthritis, Broad femoral neck, Upper l... OMIM:271650
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... OMIM:171480
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... OMIM:118651
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Microm... OMIM:200600
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Depressed nasal bridge, Con... OMIM:304120
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short... ORPHA:93296
Thoracomelic Dysplasia
Narrow chest, Disproportionate short-limb short stature, Short ribs, Bell-shaped thorax, Abnormal... ORPHA:1803
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Depresse... ORPHA:1842
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Rhizomelia, Short nose,... OMIM:108720
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... ORPHA:2496
Rhizomelic Chondrodysplasia Punctata, Type 3
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... OMIM:600121
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Three M Syndrome 1
Pectus excavatum, Depressed nasal bridge, Hypoplastic pelvis, Mandibular prognathia, Delayed skel... OMIM:273750
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, Osteopenia, Micrognathia, Short humerus, Depressed nasal bridge, Rhizomelia,... OMIM:222765
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ab... OMIM:164900
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short stature, Short hu... ORPHA:2019
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Microgn... OMIM:201170
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Severe short stature, Hyperextensibili... OMIM:313420
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Distal sym... ORPHA:93388
Thanatophoric Dysplasia, Type Ii
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... OMIM:187601
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Intestinal malrotation, Arthrogryposis multiplex co... OMIM:243180
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... ORPHA:1972
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Cleidocranial Dysplasia
Depressed nasal bridge, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Cariou... ORPHA:1452
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Pos... OMIM:617405
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Depressed nasal bridge, Short humerus, Rhizomelic a... OMIM:164745
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Achondrogenesis, Type Ib
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Hypoplastic ilia, ... OMIM:600972
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiffness, Generalized joint laxity,... OMIM:132400
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Anterior rib cupping, Lar... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... OMIM:602557
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine... ORPHA:1505
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
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology OMIM:142623
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Narrow nose, Pe... OMIM:249600
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Symphalan... OMIM:186500
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Flexion contracture, Short stature, Malar flattening... OMIM:602471
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Acrodysostosis
Accelerated skeletal maturation, Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal... ORPHA:950
Eiken Syndrome
Broad ribs, Multiple unerupted teeth, Long hallux, Eruption failure, Type A1 brachydactyly, Flatt... OMIM:600002
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of ... OMIM:311300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal ... ORPHA:3268
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi... OMIM:151210
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Short ribs, Short stature, Depressed nasal bridge, Camptoda... ORPHA:2021
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Disproportionate short-limb short stature, Metaphys... ORPHA:85166
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal death, Hypoplasi... OMIM:227270
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Microphthalmia With Limb Anomalies
Flared nostrils, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, ... OMIM:206920
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Depressed nasal br... OMIM:215140
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Shortening of all proxim... OMIM:271700
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Prominent sternum, Barrel-shape... OMIM:607326
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Severe short stature, Hypoplasia of the radius, Delayed cranial suture closure, ... ORPHA:2249
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Short ribs, Barrel-shaped chest, Short tubular bones o... OMIM:200610
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Depressed nasal bridge, Micromelia, C1-C2 subluxation, Short nos... OMIM:271665
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Metaphyseal cupping, Short ribs, Short stature, Depressed nasal bridge, Iliac crest... OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short nose, Intrauterine growth retardation, Thoracic hypoplasia, Flexion contracture... OMIM:616897
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Narrow foot, Tapered ... OMIM:600920
Seckel Syndrome 1
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Single transverse palmar cr... OMIM:210600
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Long foot,... OMIM:305620
Ruvalcaba Syndrome
Narrow chest, Clinodactyly of the 5th finger, Convex nasal ridge, Small hand, Cone-shaped epiphys... ORPHA:3121
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Thin ribs, Short stature, Sho... OMIM:618395
3M Syndrome
Bulbous nose, Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Hypoplasia of th... ORPHA:2616
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... ORPHA:93333
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondr... OMIM:187600
Matthew-Wood Syndrome
Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Brachydactyly Type A4
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... ORPHA:93394
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Cleidocranial Dysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge,... OMIM:119600
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Neonatal short... OMIM:224400
Prieto Syndrome
Talipes equinovarus, Coxa valga, Retrognathia, 11 pairs of ribs, Osteoporosis, Patellar subluxati... OMIM:309610
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Convex nasal ridge, Finger syndactyly, Malar flattening, Hypop... ORPHA:3258
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Intrauterine growth retardation, Talipes equino... ORPHA:1788
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb ORPHA:1471
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Mic... ORPHA:440354
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbell-shaped fem... ORPHA:56304
Osteoglophonic Dysplasia
Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Rhizomelia, Short ... OMIM:166250
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Otofacioosseous-Gonadal Syndrome
Narrow chest, Carpal synostosis, Pectus excavatum, Talipes equinovarus, Malar flattening, Short s... OMIM:601976
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Depressed nasal ridge, Femoral b... OMIM:114290
Langer Mesomelic Dysplasia
Disproportionate short-limb short stature, Severe short stature, Abnormal morphology of ulna, Apl... ORPHA:2632
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... ORPHA:210122
Ulnar/Fibular Ray Defect And Brachydactyly
Malar flattening, Bilateral talipes equinovarus, Short stature, Brachydactyly, Postaxial oligodac... OMIM:608571
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
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
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Short stature, Short humerus, Micromelia, Postaxial h... ORPHA:2491
Cousin Syndrome
Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger, Talipes equin... OMIM:260660
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Depressed nasal bridge, Distal uln... OMIM:277150
Mietens Syndrome
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Severe s... ORPHA:2557
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... OMIM:609441
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Reduced arm span, Osteoarthritis, Abnormality... ORPHA:166002
Autosomal Dominant Omodysplasia
Malar flattening, Short 1st metacarpal, Micrognathia, Short humerus, Depressed nasal bridge, Rhiz... ORPHA:93328
Dysosteosclerosis
Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Broad ribs, Delayed clo... OMIM:224300
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Hypophosphatasia, Infantile
Bowing of the legs, Stillbirth, Metaphyseal cupping, Widely patent fontanelles and sutures, Dispr... OMIM:241500
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Hypoplasia of the radius, Depressed nasal bridge, Hypoplasia of the ulna, Hypoplastic pelv... OMIM:602613
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Disproport... OMIM:609052
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Flat glenoid fossa, Genu valgum, Irregular iliac crest, Short long bone, Metaphyse... OMIM:250420
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Bowing of the legs, Limitation of joint mobility, Talipes equinovarus, Severe short... ORPHA:1865
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Talipes equinovarus, Convex nasal ridge, Craniosynostosis, Abn... OMIM:251230
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose,... OMIM:609945
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Underdeveloped nasal alae, Aplasia/Hypoplasia of the middle phalanges of the h... OMIM:186400
Fibrochondrogenesis 2
Metaphyseal cupping, Malar flattening, Short ribs, Hypoplastic ilia, Metaphyseal widening, Microg... OMIM:614524
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... OMIM:208500
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Short stature, Aplasia/Hyp... ORPHA:52056
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Depressed nasal bridge, Rhizomelia, Abnormal epiphysis morpholog... ORPHA:50945
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Ankle clonus, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Jo... OMIM:600561
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... OMIM:617895
Kyphomelic Dysplasia
Femoral bowing, Depressed nasal bridge, Micromelia, Pterygium, Dumbbell-shaped humerus, Thoracic ... OMIM:211350
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon OMIM:304100
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... ORPHA:85170
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Femoral bowing, Ulnar deviation of finger, Single transverse palmar creas... OMIM:601559
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... OMIM:142900
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, De... ORPHA:2256
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... OMIM:300863
Craniodiaphyseal Dysplasia
Short stature, Depressed nasal bridge, Wide nasal bridge, Abnormal rib morphology, Diaphyseal thi... ORPHA:1513
Hypochondroplasia
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Malar flattening... OMIM:146000
Muenke Syndrome
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Malar flattening, Thimbl... OMIM:602849
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Recurrent fractures, Tibial bowing, Delayed epiphyseal ossification, Bo... OMIM:600081
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Abnormally ossified vertebr... ORPHA:1512
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Diastrophic Dysplasia
Abnormal clavicle morphology, Depressed nasal bridge, Micromelia, Symphalangism affecting the pha... ORPHA:628
Waardenburg Syndrome, Type 3
Carpal synostosis, Joint contracture of the hand, Camptodactyly of finger, Brachydactyly, Wide na... OMIM:148820
Seckel Syndrome 4
Short stature, Retrognathia, 11 pairs of ribs, Steep acetabular roof, Intrauterine growth retarda... OMIM:613676
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po... OMIM:613091
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxi... OMIM:617925
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, A... ORPHA:2878
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Depressed nasal bridge, Micromelia, Postaxial hand polydactyly, Short n... OMIM:241800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Short nose, Bowing of the long bones, Elbow dislocation, Carpal synostosi... ORPHA:90652
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Genu valgum, Hip subluxation,... OMIM:271640
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Mueller-Weiss Syndrome
Avascular necrosis, Joint stiffness, Talipes calcaneovarus, Edema of the dorsum of feet, Sclerosi... ORPHA:566943
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislo... OMIM:618291
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Postaxial polydactyly, Short ribs, Short stature, M... OMIM:614091
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Abnormality of the upper limb, Sandal gap, Hypoplasia of the maxilla, Bow... ORPHA:1106
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Pectus carinatum, Disproportionate short-trunk short stature, Short nose, Block ... OMIM:272460
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Severe short stature, Short... OMIM:156400
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Accelerated skeletal maturation, Micrognathia, Micromelia, Li... ORPHA:1423
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Lethal Kniest-Like Dysplasia
Narrow chest, Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, T... ORPHA:2347
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Malar flattening, Microgna... OMIM:256050
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Osteopenia, Femoral bowing OMIM:618188
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Disproportionate short-limb short stature, Neonatal short-limb short stat... OMIM:191400
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Odontochondrodysplasia
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Depre... ORPHA:166272
Orofaciodigital Syndrome Viii
Short stature, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Recurrent aspiration pneumo... OMIM:300484
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Abnormal thorax morphol... OMIM:605274
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Reduced bone mineral density, Sh... ORPHA:2370
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Pectus carinatum, Disp... OMIM:271530
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... ORPHA:957
Schneckenbecken Dysplasia
Narrow chest, Disproportionate short-limb short stature, Hypoplastic vertebral bodies, Accelerate... ORPHA:3144
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... ORPHA:2097
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Thin ribs, Split foot, Hypoplasia of the radius, ... ORPHA:958
Hirschsprung Disease
Intestinal obstruction, Functional abnormality of the gastrointestinal tract, Intestinal polyposi... ORPHA:388
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Talon cusp, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Ta... OMIM:605282
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, 11 pairs of ribs, Rhi... OMIM:250220
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Chol... ORPHA:95427
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Coxa vara, Delayed epiphyseal ossification, Limitation of joint mobility, Finger... ORPHA:93308
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Symphalangism, Proximal, 1A
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the toes, Proximal symphalangism... OMIM:185800
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eru... OMIM:184260
Metatropic Dysplasia
Narrow chest, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Severe shor... ORPHA:2635
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... ORPHA:3248
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic ... OMIM:308050
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... OMIM:156230
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, Short phalanx of finger, Short metacarpal OMIM:618724
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Otoonychoperoneal Syndrome
Hip contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Ankle flexion contra... OMIM:259780
Feingold Syndrome
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia ORPHA:1305
Muenke Syndrome
Carpal synostosis, Malar flattening, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot,... ORPHA:53271
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Disproportionate short-limb short stature, Pectus excavatum,... ORPHA:156728
Congenital Arthrogryposis With Anterior Horn Cell Disease
Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathia, Micrognathia, Neonat... OMIM:611890
Meier-Gorlin Syndrome 1
Respiratory distress, Absent glenoid fossa, Birth length less than 3rd percentile, Pectus carinat... OMIM:224690
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... OMIM:617866
Camptodactyly Syndrome, Guadalajara, Type I
Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Short nose, Twelfth rib hypoplasia, D... OMIM:211910
Omodysplasia 1
Depressed nasal bridge, Rhizomelia, Short nose, Anterolateral radial head dislocation, Disproport... OMIM:258315
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Osteopathia Striata With Cranial Sclerosis
Apnea, Pectus excavatum, Broad ribs, Delayed closure of the anterior fontanelle, Clinodactyly of ... OMIM:300373
17Q21.31 Microduplication Syndrome
Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Short nose, Sandal gap, Delayed p... ORPHA:217340
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Cubitus valgus, Clinodactyly, Short foot OMIM:300577
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... OMIM:616809
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Lateral clavicle hook, Short ribs, Short stat... OMIM:615630
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short stature, Short humerus, Short femoral neck, Rhizomelia, Broad ... OMIM:610319
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... OMIM:127200
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh... OMIM:225500
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Kinsship Syndrome
Dislocated radial head, Bulbous nose, Supernumerary ribs, Respiratory arrest, Low hanging columel... OMIM:619297
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... ORPHA:1350
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sac... OMIM:304950
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Short... ORPHA:93329
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Micrognathia, Hypoplasia of the ulna, Wide nose, Thick nasal alae, Clinodactyly ORPHA:357175
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Short stature, Barrel-sh... OMIM:178110
Achondroplasia
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Thoracic hypoplasia, Short long bone, Nar... ORPHA:15
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Elbow ankylosis, Disproportionate tall stature, Craniosynostosis, Femoral bowing, D... ORPHA:95699
Diastrophic Dysplasia
Hip contracture, Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Talip... OMIM:222600
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Severe short stature, Micrognathia, Micromelia, Abnormal rib m... ORPHA:93298
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Depressed nasal bridge, Single transverse palmar crease, ... OMIM:113470
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology,... OMIM:602196
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... OMIM:264700
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Malar flattening, Short... OMIM:601561
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Depressed nasal bridge, ... OMIM:122860
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Short stature, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Sho... OMIM:614078
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Joint stiffness, Severe short... ORPHA:969
Jejunal Atresia
Jejunal atresia OMIM:243600
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Delayed eruption of teeth, ... OMIM:309350
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Duplicati... OMIM:268310
Meier-Gorlin Syndrome 3
Birth length less than 3rd percentile, Hypoplasia of the maxilla, Delayed skeletal maturation, In... OMIM:613803
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Micrognathia, Hypoplasia of the ulna, Wide nose, Thick nasal alae, Clinodactyly OMIM:615162
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Accelerated skeletal m... OMIM:618363
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Carious teeth, Bulging of the costoc... OMIM:277440
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Micrognathia, Mi... ORPHA:93299
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth, Craniosynostosis OMIM:218650
Mucolipidosis Ii Alpha/Beta
Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped phalanges o... OMIM:252500
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Pes c... OMIM:311450
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Osteoarth... OMIM:618618
Cooper-Jabs Syndrome
Malar flattening, Reduced bone mineral density, Abnormal hip bone morphology, Short stature, Camp... ORPHA:1488
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclero... ORPHA:2790
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short ribs, Short humeru... OMIM:607143
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Short stature, Synostosis of carpal bones, Abnormality of fibula... ORPHA:988
Brachydactyly-Distal Symphalangism Syndrome
Tall stature, Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, T... OMIM:113450
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short stature, Synostosis of carpal bones, Symphalangism affectin... ORPHA:710
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proximal placeme... OMIM:613458
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... OMIM:173800
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials OMIM:600501
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap... ORPHA:474
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Recurrent fractures, Tibial bowing, Hypophosphatemic rickets, Delayed e... OMIM:241530
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, Hypo... OMIM:143095
Cranioectodermal Dysplasia 1
Pectus excavatum, Single transverse palmar crease, Sagittal craniosynostosis, Rhizomelia, Short d... OMIM:218330
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Short stature, Abnormal ulnar metaphysis morphology... ORPHA:1040
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Atelosteogenesis Type Iii
Abnormality of the humerus, Hand clenching, Thoracic hypoplasia, Patellar dislocation, Elbow disl... ORPHA:56305
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Subaortic Stenosis-Short Stature Syndrome
Short stature, Micrognathia, Respiratory insufficiency, Bilateral single transverse palmar crease... ORPHA:3191
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar crease, Delayed... OMIM:210710
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Carpal synostosis, R... OMIM:218600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Narrow chest, Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fo... ORPHA:163649
Parana Hard Skin Syndrome
Short stature, Respiratory insufficiency, Tapered finger, Pectus carinatum, Growth delay, Restric... ORPHA:2812
Thoracolaryngopelvic Dysplasia
Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t... OMIM:187760
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... ORPHA:3269
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morpho... ORPHA:1277
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Joint stiffness, Clinodactyly of the 5th finger, Severe short ... ORPHA:1005
Diamond-Blackfan Anemia 11
Absent thumb, Short stature, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the u... OMIM:614900
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... ORPHA:896
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, Short sternum, Talipes equinovarus, Short metacarpal, ... OMIM:266910
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Disproportionate short-limb short stature, Conve... OMIM:166210
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Short stature, Hypoplastic ilia, Congenital hip ... OMIM:169550
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Short long bone, Short ribs, Bowing of the arm, Hypoplastic scap... OMIM:269860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Depressed nasal bridge, Rhizome... ORPHA:397715
Codas Syndrome
Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxity, Short stat... OMIM:600373
Weaver Syndrome
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Depressed nas... OMIM:277590
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short n... ORPHA:221054
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Aganglionic megacolon, Cryptorchidism ORPHA:452
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Short stature, Osteopenia, Barrel-shaped che... OMIM:239000
Roberts Syndrome
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... ORPHA:3103
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Opsismodysplasia
Narrow chest, Joint stiffness, Hypoplastic vertebral bodies, Pectus excavatum, Severe short statu... ORPHA:2746
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon ORPHA:897
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microg... ORPHA:1832
Greenberg Dysplasia
Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci... ORPHA:1426
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short... OMIM:611263
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Lateral clavicle hook, Postaxial polydactyly, Preaxial polydactyl... OMIM:615503
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Contrac... OMIM:613870
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anomaly, Short ribs... ORPHA:2911
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Pectoralis hypoplasia... OMIM:607323
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Femoral retroversion, Micromelia, Death in early adulthood, Hypoplastic scapulae ORPHA:79107
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Abnormal rib morphology, Rhizomelia, Ab... ORPHA:93267
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon ORPHA:275543
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Pelvis-Shoulder Dysplasia
Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Mi... ORPHA:2839
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Joint stiffness, Abnormal hip bone morphology, Short stature, Micrognathia, Camptodactyly of fing... ORPHA:1323
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Narrow chest, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... OMIM:245190
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... ORPHA:321
Ivic Syndrome
Joint stiffness, Severe short stature, Hypoplasia of the radius, Preaxial hand polydactyly, Synos... ORPHA:2307
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Absent or mini... ORPHA:66637
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Pectus excavatum, Osteopenia, Ankle clonus, Depressed nasal bridge, Osteoporosis, Hypoplasia of t... OMIM:615398
Cardiospondylocarpofacial Syndrome
Severe short stature, Failure of eruption of permanent teeth, Brachydactyly, Synostosis of carpal... ORPHA:3238
W Syndrome
Radial bowing, Broad nasal tip, Pes cavus, Depressed nasal bridge, Camptodactyly, Hypoplasia of t... ORPHA:2804
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Disproportionate short-limb short stature, Short long bone, Flexion contracture, De... OMIM:619479
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Short ribs, Respiratory insufficiency, Elbow flexion contr... ORPHA:1145
Brachydactyly Type E
Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl... ORPHA:93387
Distal Trisomy 5Q
Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Short stature, Brachydact... ORPHA:96097
Acrorenal-Mandibular Syndrome
Narrow chest, Thin ribs, Split foot, Hypoplasia of the radius, Hand polydactyly, Micrognathia, Ru... OMIM:200980
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... OMIM:617604
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Joint hyperflexibility ORPHA:2787
Apert Syndrome
Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Delayed eruption of teeth, Rhizom... OMIM:101200
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Retrognathia, Micrognathia, Camptodactyly of finger... OMIM:249710
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Pseudoarthrosis, Missing ribs, Short ribs OMIM:618155
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Hypoplasia of the radius, De... ORPHA:3404
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Occipital Horn Syndrome
Narrow chest, Short clavicles, Pectus excavatum, Coxa valga, Convex nasal ridge, Short humerus, O... OMIM:304150
Slc35A2-Cdg
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Short stature, Osteopenia... ORPHA:356961
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Craniosynostosis, Short stature, Micrognathia, Brachydactyl... ORPHA:2145
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Short statur... ORPHA:93430
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Short stat... OMIM:608154
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Depressed nasal bridge, Brachydactyly, Acromesomelia, Bowing o... ORPHA:40
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Flexion contracture, Increased laxity of fingers, Adducted thumb, Micrognathia, H... ORPHA:75840
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Femoral-Facial Syndrome
Sprengel anomaly, Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Sh... ORPHA:1988
Hypocalcemic Vitamin D-Dependent Rickets
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo... ORPHA:289157
Ruvalcaba Syndrome
Narrow chest, Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow exten... OMIM:180870
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Hypoplastic facial bones, Microretrognathia, Postaxial polydactyly, Preaxial polyda... OMIM:616300
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... OMIM:208081
Boomerang Dysplasia
Severe short stature, Hypoplastic iliac body, Hypoplastic nasal septum, Wide nasal bridge, Neonat... OMIM:112310
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Avascular necrosis of the ... OMIM:190351
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Radioulnar synostosis, Ham... ORPHA:2319
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Short ribs, Short stature, Brachydactyly, Polydactyly, Short long bone OMIM:613819
Pyknoachondrogenesis
Sclerosis of skull base, Enlarged thorax, Abnormal iliac wing morphology, Depressed nasal ridge, ... ORPHA:3003
Chromosome 8Q22.1 Duplication Syndrome
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Arthralgia of the hip, Disproportionate short... ORPHA:93284
Hypochondroplasia
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Sleep apnea... ORPHA:429
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphys... ORPHA:177
Bresek Syndrome
Cleft palate, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Intrauterine gro... ORPHA:85284
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Cryptorchidism, A... OMIM:601095
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Depressed nasal bridge, Flared femoral metaphysis... ORPHA:1427
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis ORPHA:2010
Diaphanospondylodysostosis
Respiratory distress, Talipes equinovarus, Depressed nasal ridge, Tracheomalacia, Micrognathia, R... OMIM:608022
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon OMIM:613603
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Pectus excavatum, Metaphyseal spur... OMIM:608728
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Talipes equinovarus, Adducted thumb, Enlarged naris, Micrognathia, Respiratory i... OMIM:616266
Femoral-Facial Syndrome
Short fourth metatarsal, Radioulnar synostosis, Short nose, Sprengel anomaly, Short fifth metatar... OMIM:134780
Thoracopelvic Dysostosis
Neonatal respiratory distress, Short stature, Short ribs OMIM:187770
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Postaxial Acrofacial Dysostosis
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... ORPHA:246
Laurin-Sandrow Syndrome
Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal metacarpal morpholo... ORPHA:2378
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Broad nasal tip, Depressed nasal bridge, Cone-shaped capital femoral epiphysis... OMIM:300232
Orofaciodigital Syndrome Ix
Short stature, Short tibia, Broad nasal tip, Camptodactyly, Recurrent aspiration pneumonia, Bifid... OMIM:258865
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Pectus excavatum, Talipes equinovarus, Camptodactyly of finger, Respiratory... OMIM:614399
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Microretrognathia, Convex nasal ridge, Progressive forearm bowing, M... OMIM:600383
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismus, Talipes equ... OMIM:154400
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Hypoplasia of the m... ORPHA:363417
Hyperekplexia 4
Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, R... OMIM:618011
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Retrognathia, Camptodactyly of finger, Mesomelia, Abnormal metacarp... ORPHA:2631
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Ch... ORPHA:2759
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Miscarriage, Short 1st metacarpal... ORPHA:2438
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Dental malocclusion, S... ORPHA:1327
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Broad femoral neck, Flattened ep... OMIM:615222
Astley-Kendall Dysplasia
Disproportionate short-limb short stature, Micromelia, Epiphyseal stippling ORPHA:85175
Achondrogenesis
Narrow chest, Severe short stature, Micrognathia, Micromelia, Abnormality of bone mineral density... ORPHA:932
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Short stature, 11... OMIM:617877
Postaxial Acrofacial Dysostosis
Growth delay, Pectus excavatum, Malar flattening, Hypoplasia of the radius, Micrognathia, Congeni... OMIM:263750
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Massively thickened long bone cortices, Short stature, Brachydactyly, Micromeli... OMIM:122900
Heart Defects-Limb Shortening Syndrome
Narrow chest, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Abnormal rib... ORPHA:1354
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, Patellar subluxat... ORPHA:2958
Pseudoaminopterin Syndrome
Pectus excavatum, Prominent sternum, Slender finger, Clinodactyly of the 4th finger, Single trans... ORPHA:221120
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Mesomelic short stature, Short forearm OMIM:127350
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Intrauterine growth retardation, Radial bowing, Hand oligodact... ORPHA:2879
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Severe short stature, Micromelia, Short palm, Flared, irregular rib ends, Limitation o... ORPHA:168555
Laron Syndrome
Severe short stature, Delayed menarche, Limb undergrowth, Abnormal joint morphology, Delayed skel... OMIM:262500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Limb underg... OMIM:601356
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Abnormal respi... ORPHA:266
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Malar flatten... OMIM:300244
Nail-Patella Syndrome