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 thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Broad nasal tip, De... ORPHA:166016
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized os... OMIM:215045
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... ORPHA:2639
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Delayed epiphyseal ossification, Tachypnea, Narrow chest, Death in childhood, Death i... OMIM:613320
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Metaphyse... OMIM:618961
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... ORPHA:90650
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Absent radius, Lat... OMIM:171480
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Thoracic kyphoscoliosi... OMIM:613330
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ... OMIM:271650
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib... ORPHA:1803
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han... ORPHA:1842
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short... OMIM:118651
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... OMIM:108720
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Neonatal ... OMIM:602471
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Clinodactyly of the 5th finger, Spina bifida occulta, S... OMIM:273750
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... OMIM:201170
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb sh... OMIM:151210
Brachydactyly Type A1
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... ORPHA:93388
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... ORPHA:1856
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Depr... OMIM:313420
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... OMIM:617405
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... ORPHA:1452
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Ab... OMIM:600972
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Asth... OMIM:616716
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... OMIM:132400
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... OMIM:249600
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Abnormality of body height, Humeroradial synostosis, Progressi... OMIM:186570
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... OMIM:600002
Acrodysostosis
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... ORPHA:950
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... ORPHA:3268
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b... ORPHA:140
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... ORPHA:85166
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... OMIM:227270
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... OMIM:619598
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... ORPHA:2021
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ... OMIM:271700
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... ORPHA:2249
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri... ORPHA:2831
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Flexion contracture, Decrease... OMIM:616897
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Prominent nose, Cl... OMIM:210600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Multiple joint d... OMIM:618395
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Steel Syndrome
Carpal synostosis, Pes planus, Anteverted nares, Short stature, Hip dislocation, Wide nasal bridg... OMIM:615155
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Overtubulated long bones, S... OMIM:618150
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... ORPHA:1788
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... OMIM:600920
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
3M Syndrome
Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas... ORPHA:2616
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... ORPHA:3121
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... OMIM:224400
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... OMIM:187600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi... OMIM:612447
Omodysplasia 2
Short humerus, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Wide nasal bridge, Fibular ... OMIM:164745
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met... ORPHA:56304
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... ORPHA:2470
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Prieto Syndrome
11 pairs of ribs, Coxa valga, Prominent nose, Osteoporosis, Patellar subluxation, Talipes equinov... OMIM:309610
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus... ORPHA:2557
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Micrognathia, Delayed ep... OMIM:114290
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... OMIM:250420
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... OMIM:616300
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... ORPHA:2491
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand,... OMIM:277150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ... ORPHA:1865
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... ORPHA:93328
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathia, Postnatal growth retard... OMIM:619135
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia... OMIM:241800
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibili... OMIM:241500
Blomstrand Lethal Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D... ORPHA:50945
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Short stature, Lateral clavicle hook, Horizontal ribs, ... OMIM:208500
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc... OMIM:609052
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl... OMIM:222765
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Micromelia, Humeroradial ... OMIM:251230
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Syngnathia
Cleft palate OMIM:119550
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, Prenatal death, Camptodact... OMIM:618393
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydact... OMIM:617895
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Hand muscle atrophy, Short stature, Delayed skeletal maturation, Ankle clonus, Resp... OMIM:600561
Seckel Syndrome 4
11 pairs of ribs, Severe short stature, Underdeveloped nasal alae, Steep acetabular roof, Intraut... OMIM:613676
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... OMIM:601559
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Clinodactyl... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... OMIM:602557
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Hypoplas... OMIM:615349
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla... OMIM:613091
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ... OMIM:272460
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte... ORPHA:1512
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... OMIM:610017
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide n... ORPHA:1513
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Depressed... OMIM:300863
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, ... OMIM:617925
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:96334
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Camptodactyly of finger, Prominent nasal bridge, Wide na... OMIM:148820
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atresia, Mic... OMIM:156400
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology... ORPHA:2878
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,... OMIM:614091
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, La... OMIM:256050
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized oste... ORPHA:1423
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... ORPHA:958
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr... ORPHA:166272
Orofaciodigital Syndrome Viii
Syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia, Recurrent ... OMIM:300484
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... ORPHA:2370
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Mesomelic Dysplasia, Savarirayan Type
Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal tho... OMIM:605274
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... ORPHA:2097
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... OMIM:212780
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... ORPHA:957
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short s... OMIM:122860
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... OMIM:605282
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... ORPHA:2756
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bridge, Ulnar bowing, Fem... OMIM:620076
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho... ORPHA:2635
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Anteverted nares, Depressed nasal ... OMIM:616809
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... OMIM:224690
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the ph... OMIM:615630
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short-limb... ORPHA:156728
Otoonychoperoneal Syndrome
Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... OMIM:259780
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, El... ORPHA:95699
Omodysplasia 1
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Depress... OMIM:258315
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... OMIM:300373
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Malar flatte... ORPHA:53271
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Kinsship Syndrome
Osteopenia, Pes planus, Mandibular prognathia, Death in infancy, Short stature, Single transverse... OMIM:619297
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micromelia, Micrognat... ORPHA:93329
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ... OMIM:611890
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... OMIM:225500
Diastrophic Dysplasia
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... OMIM:222600
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Delayed puberty, Clinodactyly of the ... ORPHA:217340
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae ORPHA:357175
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Anteverted nares, Metaphysea... OMIM:618188
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... OMIM:268310
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Short distal phalanx of finger, Easily subluxated first metacarpo... OMIM:311895
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Jejunal Atresia
Jejunal atresia OMIM:243600
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm... ORPHA:63442
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the... OMIM:309350
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Wide nasal bridge, Sympha... ORPHA:710
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Joint stiffness, Delayed skeletal matur... ORPHA:969
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... ORPHA:93298
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... OMIM:613803
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Cooper-Jabs Syndrome
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Short statu... ORPHA:1488
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae OMIM:615162
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... OMIM:143095
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... OMIM:173800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Vertebral fusion, Short stature, Tarsal synostosis, Elbow c... OMIM:178110
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Anteverted nares, Sagitt... OMIM:218330
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, ... ORPHA:93299
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Anteverted nares, Thoracolumb... OMIM:252500
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... OMIM:607078
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Convex nasal ridge, Brachydac... ORPHA:1277
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho... ORPHA:2790
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac... OMIM:169550
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi... ORPHA:163649
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Short toe, Shor... OMIM:269860
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Metaphyseal Anadysplasia
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... ORPHA:1040
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... ORPHA:397715
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel... OMIM:277590
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis OMIM:618155
Waardenburg Syndrome Type 3
Narrow nasal bridge, Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutane... ORPHA:896
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Short stature, Micrognathia, Respiratory insufficiency, Synostosis of carpal bo... ORPHA:3191
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or ... ORPHA:66637
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Prom... ORPHA:1005
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metat... ORPHA:2804
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy... OMIM:617604
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Aganglionic megacolon, Exocrine pancreatic insufficiency, Malabsorption ORPHA:452
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Thoracic h... ORPHA:221054
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Wide nose, Short femur, Sandal gap, Rhizomelia, Hypoplasia o... OMIM:607143
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon ORPHA:275543
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption... OMIM:606893
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... OMIM:239000
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology ORPHA:897
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Lateral clavicle hook, ... OMIM:615503
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, Amelogene... OMIM:618363
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce... ORPHA:2911
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Sandal gap, Anteverted nares, Short stature, Pectus excavatum, Shor... OMIM:617877
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia ORPHA:79107
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Absent thumb, Mi... ORPHA:96097
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h... OMIM:200980
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev... ORPHA:1240
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Interph... OMIM:613870
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnorma... ORPHA:1323
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Pe... ORPHA:63446
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal... OMIM:609616
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Pect... ORPHA:2746
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Cardiospondylocarpofacial Syndrome
Severe short stature, Short palm, Failure of eruption of permanent teeth, Synostosis of carpal bo... ORPHA:3238
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Depressed nasal brid... OMIM:619479
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... OMIM:151200
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Glycosylphosphatidylinositol Biosynthesis Defect 11
Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphatase concentration... OMIM:616025
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Micrognathia, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperext... ORPHA:75840
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeror... ORPHA:3404
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Disproportionate short stature... ORPHA:40
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, D... OMIM:615398
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax... OMIM:617102
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... ORPHA:2145
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... ORPHA:2633
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula mo... ORPHA:1988
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... OMIM:190351
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... OMIM:210710
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal ... ORPHA:2319
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Ruvalcaba Syndrome
Short metacarpal, Short stature, Micromelia, Underdeveloped nasal alae, Limited elbow extension, ... OMIM:180870
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... OMIM:304150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Ulnar dev... OMIM:618291
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... ORPHA:177
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the... OMIM:614900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta... OMIM:218600
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Anteverted nares, Micrognathia,... OMIM:616266
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... ORPHA:246
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Hypochondroplasia
Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ... OMIM:146000
Orofaciodigital Syndrome Ix
Toe syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Hand polydactyly, Camptodactyly,... OMIM:258865
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Genu valgum, S... OMIM:608154
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... OMIM:614613
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... OMIM:134780
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Thoracopelvic Dysostosis
Neonatal respiratory distress, Short stature, Short ribs OMIM:187770
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Miscarriage, Short hallux, Proximal placement ... ORPHA:2438
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... ORPHA:2631
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... OMIM:263750
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Dispropo... ORPHA:1354
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Intrauterine growth ... ORPHA:85284
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Laron Syndrome
Severe short stature, Abnormal joint morphology, Delayed skeletal maturation, Short long bone, Li... OMIM:262500
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... OMIM:615222
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... ORPHA:2484
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... ORPHA:2204
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Prominent nose, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral ta... ORPHA:2958
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... ORPHA:429
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinovarus, Camptodacty... OMIM:618011
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... OMIM:161200
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas... OMIM:276820
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... ORPHA:221120
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Long palm, Choanal atresia, Missing ribs, Dyspnea, Abnormal... ORPHA:2759
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda... OMIM:258860
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Anteverted nares, Camptod... ORPHA:1327
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Limited knee flexion/extension, R... ORPHA:266
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ... ORPHA:314795
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Choanal atresia, Underdeveloped n... ORPHA:2108
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ... ORPHA:168555
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon ORPHA:1438
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... OMIM:619751
Achondrogenesis
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... ORPHA:932
Autosomal Recessive Robinow Syndrome
Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palma... ORPHA:1507
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Splenomegaly, Malabsorption ORPHA:100025
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Clinodactyly ... OMIM:616145
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Fl... ORPHA:93307
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... OMIM:611717
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short stature, Talipes, Camptodactyly of finger, Micrognathia, Delayed skeletal... ORPHA:1495
Kniest Dysplasia