Gene: Npr2 MGI:97372

Gene Summary

Name:

natriuretic peptide receptor 2

Synonyms:

cn, guanylyl cyclase-B, pwe

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal locomotor behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.03×10^-10
abnormal head size	Npr2^em1(IMPC)H	HOM	Early adult	3.87×10^-08
abnormal head morphology	Npr2^em1(IMPC)H	HOM	Early adult	5.95×10^-12
abnormal forelimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
abnormal gait	Npr2^em1(IMPC)H	HOM	Early adult	9.20×10^-07
abnormal tail morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
decreased circulating alkaline phosphatase level	Npr2^em1(IMPC)H	HOM	Early adult	3.56×10^-07
increased freezing behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.73×10^-09
tremors	Npr2^em1(IMPC)H	HOM	Early adult	9.76×10^-09
abnormal tail morphology	Npr2^em1(IMPC)H	HET	Early adult	1.51×10^-08
preweaning lethality, incomplete penetrance	Npr2^em1(IMPC)H	HOM	Early adult	0.00
limb grasping	Npr2^em1(IMPC)H	HOM	Early adult	1.47×10^-09
abnormal hindlimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
impaired cued conditioning behavior	Npr2^em1(IMPC)H	HOM	Early adult	3.26×10^-05
trunk curl	Npr2^em1(IMPC)H	HOM	Early adult	1.18×10^-09
abnormal tail length	Npr2^em1(IMPC)H	HOM	Early adult	1.31×10^-10
abnormal snout morphology	Npr2^em1(IMPC)H	HET	Early adult	2.01×10^-05
abnormal snout morphology	Npr2^em1(IMPC)H	HOM	Early adult	6.34×10^-07
increased grip strength	Npr2^em1(IMPC)H	HET	Early adult	7.41×10^-06

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Npr2 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.

Human diseases associated with Npr2 (4 diseases)
Human diseases predicted to be associated with Npr2 (2526 diseases)

The table below shows human diseases associated to Npr2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acromesomelic Dysplasia, Maroteaux Type	Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho...	ORPHA:40
Acromesomelic Dysplasia 1	Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo...	OMIM:602875
Epiphyseal Chondrodysplasia, Miura Type	Long hallux, Epiphyseal dysplasia, Broad hallux, Scoliosis, Osteopenia, Arachnodactyly, Fifth fin...	OMIM:615923
Short Stature With Nonspecific Skeletal Abnormalities	Proportionate short stature	OMIM:616255

The table below shows human diseases predicted to be associated to Npr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ...	OMIM:607778
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Metaphyseal Acroscyphodysplasia	Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Midface retrusion, Sh...	OMIM:250215
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Midface re...	OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short humerus, Rhizomelia, Short femur	OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type	Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Short femur, Hypop...	OMIM:619598
Dyggve-Melchior-Clausen Disease	Broad foot, Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Beaking of vertebral bod...	OMIM:223800
Acrodysostosis	Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Midface retrus...	ORPHA:950
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ...	OMIM:118651
Cleidocranial Dysplasia	Brachycephaly, Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia...	ORPHA:1452
Omodysplasia 2	Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow...	OMIM:164745
Brachydactyly, Type C	Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr...	OMIM:113100
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizom...	ORPHA:2831
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Ir...	ORPHA:1856
Atelosteogenesis, Type I	Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Midface retrusion...	OMIM:108720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses of the...	OMIM:210720
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g...	OMIM:228520
Platyspondylic Dysplasia, Torrance Type	Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Short foot, Abdominal ...	ORPHA:85166
Léri-Weill Dyschondrosteosis	Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity...	ORPHA:240
3M Syndrome	Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Midface retrusion, Everted lower lip...	ORPHA:2616
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Sclerotic scapulae, Sh...	OMIM:601376
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy...	OMIM:609052
Smith-Mccort Dysplasia 1	Short phalanx of finger, Hypoplastic acetabulae, Hypoplastic facial bones, Beaking of vertebral b...	OMIM:607326
Ulnar Hemimelia	Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac...	ORPHA:93320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Midface retrusion, Micromelia, Short femur, ...	ORPHA:440354
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Delayed ossification of pubic rami, Rhizomelia, Short stature, High palate, Micrognathia, Hip dis...	OMIM:602471
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas...	OMIM:200700
Spondyloperipheral Dysplasia	Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Midface retrusion, Shorte...	OMIM:271700
Thanatophoric Dysplasia, Type I	Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Metaphyseal irregularity, Short rib...	OMIM:187600
Maxillonasal Dysplasia, Binder Type	Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume...	OMIM:155050
Achondrogenesis, Type Ia	Unossified vertebral bodies, Abnormal hand bone ossification, Disproportionate short-trunk short ...	OMIM:200600
Autosomal Dominant Omodysplasia	Ambiguous genitalia, Rhizomelia, Short 1st metacarpal, Bifid scrotum, Patellar dislocation, Micro...	ORPHA:93328
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short femoral neck, Short stature, Sinu...	OMIM:616716
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short phalanx of finger, Camptodactyly of finger, Tapered finger, Delayed eruption of teeth, Flat...	OMIM:612350
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio...	ORPHA:85188
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci...	ORPHA:1505
Episodic Ataxia, Type 1	Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas...	OMIM:160120
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyse...	OMIM:222765
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Disproportionate short-trunk...	OMIM:613330
Paramyotonia Congenita Of Von Eulenburg	Myotonia of the face, Facial muscle hypertrophy, Myotonia, Myotonia of the upper limb, EMG: myopa...	ORPHA:684
Brachydactyly Type A1	Short foot, Short stature, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, ...	ORPHA:93388
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Midface retrusion, Elbow dislocation, Phocomelia, Short 2nd metacarpal, Lat...	OMIM:171480
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Toe syndactyly, Cachexia, Biparietal narrowing, Pes cavus, Short palm, P...	ORPHA:85293
Faciocardiomelic Dysplasia, Lethal	Retrognathia, Radial deviation of the hand, Short 5th finger, Small for gestational age, Microgna...	OMIM:227270
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita...	OMIM:147891
Three M Syndrome 2	Short 5th finger, Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperl...	OMIM:612921
Thanatophoric Dysplasia, Type Ii	Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Platys...	OMIM:187601
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Prominent nose, Finger syndactyly, Kyphosis, Abnormality of the elbow, Turricephaly, Vertebral se...	ORPHA:1005
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va...	OMIM:608940
Osteoglophonic Dysplasia	Short phalanx of finger, Broad foot, Midface retrusion, Limb undergrowth, Short palm, Pseudoarthr...	OMIM:166250
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Mandibular prognathia, High palate, Wide nasal bridge, Short stature, Abnorm...	ORPHA:3079
Spondylometaphyseal Dysplasia, Corner Fracture Type	Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi...	OMIM:184255
Rubinstein-Taybi Syndrome 2	Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Convex nasal ridge, Short first met...	OMIM:613684
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Wide nose, Decreased body weight, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ul...	ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35	Wide nose, Decreased body weight, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ul...	OMIM:615162
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Midface retrusion, Pectus ...	ORPHA:1327
Leri-Weill Dyschondrosteosis	Short tibia, Short 4th metacarpal, Abnormal carpal morphology, Coxa valga, Increased carrying ang...	OMIM:127300
Dystonia 31	Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Depression...	OMIM:619565
Mental Retardation Syndrome, Mietens-Weber Type	Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Severe postn...	OMIM:249600
Angioosteohypotrophic Syndrome	Thin bony cortex, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Apl...	ORPHA:75508
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Wide nose, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radi...	OMIM:607143
Pelviscapular Dysplasia	Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short stature, Elbow flexion...	ORPHA:93333
Acromesomelic Dysplasia, Maroteaux Type	Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho...	ORPHA:40
Atelosteogenesis Type Ii	Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha...	ORPHA:56304
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Hypopla...	OMIM:602613
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Narrow palate, Finger syndactyly, Short stature, Vertebra...	ORPHA:1323
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Hypopla...	ORPHA:61
Acromesomelic Dysplasia 2C	Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc...	OMIM:201250
Femur-Fibula-Ulna Complex	Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Short stature, Abnormal mor...	ORPHA:2019
Acrocephalopolydactyly	Oxycephaly, Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Shor...	ORPHA:221054
Lethal Faciocardiomelic Dysplasia	Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Intrauterine growth re...	ORPHA:1972
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Micrognat...	OMIM:119600
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend...	OMIM:600920
Cleidorhizomelic Syndrome	Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin...	ORPHA:1453
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Pec...	OMIM:252500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh...	OMIM:618395
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ...	OMIM:112910
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Microgna...	ORPHA:2256
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Hip ...	ORPHA:1858
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ...	OMIM:614091
Pycnodysostosis	Convex nasal ridge, Micrognathia, Increased bone mineral density, Midface retrusion, Hepatospleno...	ORPHA:763
Metatropic Dysplasia	Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportionate short-trunk short ...	OMIM:156530
Rhizomelic Dysplasia, Patterson-Lowry Type	Coxa vara, Short metacarpal, Rhizomelia, Platyspondyly, Brachydactyly, Short metatarsal, Deformed...	OMIM:601438
Langer Mesomelic Dysplasia	Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin...	OMIM:249700
Femoral-Facial Syndrome	Micrognathia, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus, Orofacial ...	ORPHA:1988
Tetraploidy	Radial club hand, Convex nasal ridge, Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal ...	ORPHA:3305
Filippi Syndrome	Ambiguous genitalia, Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, I...	OMIM:272440
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Aplasia/Hypop...	OMIM:612447
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum...	ORPHA:174
Seckel Syndrome 1	Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc...	OMIM:210600
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Genu valgum, Pseudoepiphyses, Widely-spaced incisors, Tapered finger, Metaphy...	OMIM:601668
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi...	OMIM:234250
Hypochondroplasia	Widened interpedicular distance, Genu varum, Short femoral neck, Short long bone, Macrocephaly, B...	OMIM:146000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Inappropriate behavior, Memory impairment, Cognitive impairment, Parkinsonism, Rigidity, ...	ORPHA:401901
Acro-Renal-Mandibular Syndrome	Micrognathia, Butterfly vertebrae, Hip dislocation, Rudimentary to absent tibiae, Orofacial cleft...	ORPHA:958
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem...	ORPHA:309169
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Limb und...	OMIM:151210
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra...	OMIM:186500
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim...	ORPHA:750
Multiple Metaphyseal Dysplasia	Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho...	ORPHA:93430
Achondrogenesis Type 1A	Short thorax, Short foot, Abnormal enchondral ossification, Long philtrum, Micrognathia, Multiple...	ORPHA:93299
Metaphyseal Anadysplasia 2	Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy...	OMIM:613073
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Short femur, Hypertrophic ca...	OMIM:616897
Achondroplasia	Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Short femur, Limited elbow extensio...	OMIM:100800
Muenke Syndrome	Brachycephaly, Dental malocclusion, Short middle phalanx of toe, Plagiocephaly, High palate, Capi...	OMIM:602849
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the elbow, Short stature, Abnormality of the wrist, Split hand, Microcephaly, Micr...	ORPHA:2491
Ovarian Dysgenesis 7	Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus	OMIM:618117
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
17Q21.31 Microduplication Syndrome	High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ...	ORPHA:217340
Cenani-Lenz Syndrome	Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ...	ORPHA:3258
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Coxa valga, Thoracic hypoplasia, Wide nasal bridge, Plagiocephaly, Micrognathia, Epi...	ORPHA:96334
Atelosteogenesis, Type Ii	Thoracic hypoplasia, Micrognathia, Midface retrusion, Limb undergrowth, Lacunar halos around chon...	OMIM:256050
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short phalanx of finger, Wide nasal bridge, Midface retrusion, Limb undergrowth, Short metatarsal...	OMIM:617102
Campomelic Dysplasia	Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Micrognathia, H...	OMIM:114290
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop...	OMIM:614524
Acromicric Dysplasia	Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ...	ORPHA:969
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Short stature, Growth delay, Brac...	ORPHA:52056
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Lig4 Syndrome	Brachycephaly, Cutaneous photosensitivity, Convex nasal ridge, Wide nasal bridge, Micrognathia, B...	ORPHA:99812
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
Cousin Syndrome	Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia...	OMIM:260660
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Mandibular prognathia, Tapered finger, High palate, Relative macrocephaly, A...	OMIM:618292
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban...	OMIM:614561
Desbuquois Dysplasia 1	Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg...	OMIM:251450
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed...	OMIM:277150
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Symphalangism affecting the phalanges of the hand, Prominent nose, Long philtrum, ...	ORPHA:1292
8P23.1 Microdeletion Syndrome	Enlarged thorax, Tapered finger, High palate, Weight loss, Wide nasal bridge, Short stature, Micr...	ORPHA:251071
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Short foot, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, ...	OMIM:300577
Odontochondrodysplasia 1	Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge...	OMIM:184260
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A...	ORPHA:488191
Symphalangism With Multiple Anomalies Of Hands And Feet	Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,...	ORPHA:3246
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ...	OMIM:112700
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short stature, ...	OMIM:156510
Mulibrey Nanism	Wide nose, Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Wide nasal bridge...	OMIM:253250
Mcdonough Syndrome	Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ...	ORPHA:2471
Acrodysostosis 1 With Or Without Hormone Resistance	Short phalanx of finger, Brachycephaly, Delayed eruption of teeth, Epiphyseal stippling, Midface ...	OMIM:101800
Acrootoocular Syndrome	Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus excavatum, Cutaneous syndactyly, ...	ORPHA:2980
Brachydactyly, Type A1	Slender metacarpals, Radial deviation of the 3rd finger, Absent distal interphalangeal creases, B...	OMIM:112500
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep...	OMIM:609324
Mietens Syndrome	Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal...	ORPHA:2557
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Short finger, Acrocyanosis, Severe short stature, Microcephaly	OMIM:302000
Epiphyseal Dysplasia, Multiple, 5	Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem...	OMIM:607078
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Kyphosis, Wide anterior fontanel, Lethal short-limbed short stature, Macrocepha...	ORPHA:1860
Fibrochondrogenesis	Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Plagiocephaly, S...	ORPHA:2021
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Orofaciodigital Syndrome Type 6	Micrognathia, Feeding difficulties in infancy, Biparietal narrowing, Abnormal oral frenulum morph...	ORPHA:2754
Ritscher-Schinzel Syndrome 3	Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Micrognathia, Poorly ossifi...	OMIM:619135
Robinow Syndrome, Autosomal Recessive 1	Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion, Pectus excavatum, Dislocated ra...	OMIM:268310
Eiken Syndrome	Short phalanx of finger, Broad foot, Thin bony cortex, Abnormal trabecular bone morphology, Narro...	ORPHA:79106
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp...	OMIM:212780
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega...	OMIM:619350
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De...	ORPHA:2878
Satoyoshi Syndrome	Genu varum, Tapered finger, Short stature, Abnormality of the humerus, Abnormality of the ovary, ...	ORPHA:3130
Epiphyseal Dysplasia, Multiple, 4	Limited elbow flexion, Short metacarpal, Double-layered patella, Short stature, Hip dysplasia, Fl...	OMIM:226900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace...	OMIM:617405
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Large iliac wing, Abnormality of the wrist, Pectus excavatum, Abnormal zygomatic b...	ORPHA:2511
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Abnorma...	OMIM:300604
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Convex nasal ridge, Micrognathia, Long thorax, Abnormal palate morphology, Tooth agenesis, Mesome...	ORPHA:1277
Spondyloepiphyseal Dysplasia Congenita	Increased head circumference, Micrognathia, Short femur, Aplasia/hypoplasia involving bones of th...	ORPHA:94068
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, High palate, Short stature, Median cleft lip, Syndactyly, Broad nasal t...	OMIM:300484
Stuve-Wiedemann Syndrome 1	Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra...	OMIM:601559
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnorm...	OMIM:257850
Campomelic Dysplasia	11 pairs of ribs, Kyphosis, Short long bone, Short stature, Hypoplastic inferior ilia, Micrognath...	ORPHA:140
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ...	OMIM:144750
16Q24.3 Microdeletion Syndrome	High palate, Long philtrum, Kyphosis, Wide mouth, Dysphagia, Micrognathia, Hip dysplasia, Biparie...	ORPHA:261250
Brachydactyly, Type A1, C	Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal...	OMIM:615072
Dysostosis Multiplex, Ain-Naz Type	Hypoplastic iliac wing, Flat acetabular roof, Hip dislocation, Abdominal distention, Severe short...	OMIM:619345
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,...	ORPHA:2249
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, 11 pairs of ribs, Triphalangeal thumb, Prominent nose, Wide anterior fontanel, Wide ...	OMIM:201170
Image Syndrome	Depressed nasal bridge, Hypogonadism, Micromelia	ORPHA:85173
Spondyloepimetaphyseal Dysplasia, Shohat Type	Vertebral hypoplasia, Limb undergrowth, Hepatomegaly, Narrow greater sciatic notch, Splenomegaly,...	OMIM:602557
Pde4D Haploinsufficiency Syndrome	Hypotension, Broad foot, Short phalanx of finger, Brachycephaly, Micrognathia, Prominent nasal ti...	ORPHA:439822
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro...	OMIM:616331
Craniosynostosis 3	Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Hallux valgus, Bicoro...	OMIM:615314
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Abnormal long bone morphology, Short finger, Abnormal pelvic girdle bone morphology, G...	OMIM:259270
Achondroplasia	Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,...	ORPHA:15
Monosomy 18Q	Tapered finger, Biparietal narrowing, Pectus excavatum, Slender build, Talipes equinovarus, Promi...	ORPHA:1600
Tetrasomy X	Premature ovarian insufficiency, Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th fi...	ORPHA:9
Rhizomelic Syndrome, Urbach Type	Micrognathia, Hip dislocation, Cleft palate, Abnormality of the tongue, Abnormal form of the vert...	ORPHA:3098
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fi...	ORPHA:166016
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Broad foot, Thoracic dysplasia, Median cleft lip, Limb undergrowth, Hepatomegaly...	OMIM:269860
Kyphomelic Dysplasia	Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi...	OMIM:211350
Dyggve-Melchior-Clausen Disease	Hypoplastic acetabulae, Limited elbow extension, Beaking of vertebral bodies, Abnormality of the ...	ORPHA:239
Acrocapitofemoral Dysplasia	Hyperlordosis, Genu varum, Short thorax, Coxa vara, Short stature, Flared iliac wing, Macrocephal...	ORPHA:63446
Metaphyseal Chondrodysplasia, Spahr Type	Genu varum, Hyperlordosis, Progressive leg bowing, Abnormality of the dentition, Short lower limb...	ORPHA:2501
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Coxa valga, Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Flattened e...	OMIM:618363
Myotonia Congenita, Autosomal Recessive	Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Dysphagia, Myotonia with warm-up phen...	OMIM:255700
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit...	ORPHA:216873
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Genu varum, Medial widening of clavicles, Short femoral neck, Coxa vara, Rhizomelia, Flared iliac...	OMIM:183849
Chondrodysplasia With Joint Dislocations, Gpapp Type	Patellar dislocation, Wide nasal bridge, Micrognathia, Limb undergrowth, Limited elbow extension,...	OMIM:614078
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Nasogastric tube feeding in infancy, Convex nasal ridge, Abnormality of upper lip vermillion, Mic...	ORPHA:251028
Atelosteogenesis, Type Iii	Micrognathia, Midface retrusion, Prominent occiput, Elbow dislocation, Cleft palate, Knee disloca...	OMIM:108721
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Narrow greater sciatic notch, Genu valgum, Metaphyseal irregularity, Metaphyseal da...	OMIM:184250
Trichorhinophalangeal Syndrome, Type I	Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic...	OMIM:190350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Micrognathia, Flared...	OMIM:609945
Cranioectodermal Dysplasia 1	Wide nasal bridge, Microdontia, Malformation of the hepatic ductal plate, Pectus excavatum, Evert...	OMIM:218330
Toluene Embryopathy	Tapered finger, Short stature, Micrognathia, Biparietal narrowing, Short nose, Microcephaly, Smoo...	ORPHA:1920
Cornelia De Lange Syndrome 2	Brachycephaly, Micrognathia, Hypertrophic cardiomyopathy, Smooth philtrum, Postnatal growth retar...	OMIM:300590
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microcephaly, Absent middle phalanx ...	OMIM:211369
Anauxetic Dysplasia 2	Hyperlordosis, Coxa valga, Coxa vara, Short femoral neck, Short stature, Posterior wedging of ver...	OMIM:617396
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Gombo Syndrome	Clinodactyly, Delayed puberty, Radial deviation of finger, Microcephaly, Brachydactyly	OMIM:233270
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Long philtrum, Thick vermilion border, Biparietal narrowing, Clinodactyly of the 5th finger, Micr...	ORPHA:228396
Metaphyseal Acroscyphodysplasia	Short toe, Genu varum, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Cone-shaped metacarp...	ORPHA:1240
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Midface retrusion, Bro...	OMIM:618019
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou...	ORPHA:261529
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal ossification involvi...	ORPHA:1190
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata...	ORPHA:2779
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Hallux valgus, Short stature, Kyphoscoliosis, Microcephaly	OMIM:615541
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,...	ORPHA:2634
Craniosynostosis-Mental Retardation-Clefting Syndrome	Convex nasal ridge, Lower limb undergrowth, Microcephaly, Forearm undergrowth, Craniosynostosis, ...	OMIM:218650
Greenberg Dysplasia	Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr...	OMIM:215140
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening, Frontal bossing	ORPHA:1513
Microcephaly-Micromelia Syndrome	Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, ...	OMIM:251230
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Abd...	ORPHA:1876
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ...	ORPHA:2141
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Delayed eruption of teeth...	OMIM:143095
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Midface retrusion, Pectus excavatum, Spina bifida occulta, Everted lower lip vermilion, Short toe...	OMIM:617877
Cranioectodermal Dysplasia	Microdontia, Taurodontia, Prominent occiput, Pectus excavatum, Everted lower lip vermilion, Abnor...	ORPHA:1515
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Midface retrusion, Micromelia...	ORPHA:1426
Lathosterolosis	Toe syndactyly, Micrognathia, Biparietal narrowing, Hepatomegaly, Postaxial hand polydactyly, Thr...	ORPHA:46059
Roifman Syndrome	Irregular capital femoral epiphysis, Hepatosplenomegaly, Broad femoral head, Eosinophilia, Postna...	ORPHA:353298
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe...	OMIM:609441
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Short stature, Biparietal narrowing, Brachyda...	ORPHA:1770
Perching Syndrome	Cyanosis, High palate, Camptodactyly, Depressed nasal bridge, Scoliosis, Dysphagia, Feeding diffi...	OMIM:617055
Maxillonasal Dysplasia	Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert...	ORPHA:1248
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Cardiofaciocutaneous Syndrome	Feeding difficulties in infancy, Biparietal narrowing, Pectus excavatum, Hypertrophic cardiomyopa...	ORPHA:1340
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat...	OMIM:309350
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Postnatal growth retardation, Short toe, Irregular vert...	OMIM:616651
Blepharophimosis-Impaired Intellectual Development Syndrome	Tapered finger, Plagiocephaly, Wide nasal bridge, Microdontia, Feeding difficulties, Talipes equi...	OMIM:619293
Codas Syndrome	Short phalanx of finger, Delayed eruption of teeth, Genu valgum, Pes valgus, Congenital hip dislo...	OMIM:600373
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Brachycephaly, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodact...	ORPHA:95699
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Short stature, Small f...	OMIM:608154
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Narrow chest, Diaphyseal thickening, Mac...	ORPHA:3144
Sugarman Brachydactyly	Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro...	OMIM:272150
Coloboma Of Macula-Brachydactyly Type B Syndrome	Camptodactyly of finger, Short stature, Broad thumb, Type B brachydactyly, Short distal phalanx o...	ORPHA:1471
Epiphyseal Dysplasia, Multiple, 7	Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip...	OMIM:617719
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Mesomelic short stature, Neonatal short-limb short stature...	OMIM:156230
Rothmund-Thomson Syndrome	Nasogastric tube feeding in infancy, Diarrhea, Delayed eruption of teeth, Abnormal trabecular bon...	ORPHA:2909
Alagille Syndrome	Brachycephaly, Micrognathia, Spina bifida occulta, Hepatomegaly, Abnormal rib morphology, Abnorma...	ORPHA:52
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna...	OMIM:268305
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Lateral clavicle hook, Cleft palate, Talipes ...	OMIM:613091
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f...	OMIM:612310
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e...	ORPHA:1350
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Cono-Spondylar Dysplasia	Kyphosis, Short 4th toe, Short lower limbs, Midface retrusion, Cone-shaped epiphyses of the phala...	ORPHA:420794
Momo Syndrome	Brachycephaly, Thick upper lip vermilion, Delayed eruption of teeth, Taurodontia, Smooth philtrum...	ORPHA:2563
Brachydactyly, Type A4	Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f...	OMIM:112800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short stature, Micrognathia, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion,...	ORPHA:2015
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi...	OMIM:142900
Non-Distal Monosomy 10Q	Wide nasal bridge, Biparietal narrowing, Clinodactyly of the 5th finger, Bilateral single transve...	ORPHA:1581
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper...	OMIM:609616
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Ankle clonus, Restrictive cardiomyopathy, High palate, Long philtrum, Deep philtru...	OMIM:615398
Hypochondroplasia	Hyperlordosis, Short toe, Genu varum, Abnormality of the elbow, Macrocephaly, Abnormal pelvic gir...	ORPHA:429
Developmental Malformations-Deafness-Dystonia Syndrome	Achalasia, Kyphosis, Femoral retroversion, Short stature, Macroglossia, Scoliosis, Micromelia, Dy...	ORPHA:79107
Cutis Laxa, Autosomal Recessive, Type Iie	Convex nasal ridge, Wide nasal bridge, Prominent nasolabial fold, Hip dislocation, Pectus excavat...	OMIM:619451
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Short femoral neck, Kyphosis, Short stature, Small for gestational age, De...	OMIM:618392
Diastrophic Dysplasia	Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, C...	OMIM:222600
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
Osteogenesis Imperfecta, Type X	Thin bony cortex, Thoracic hypoplasia, Micrognathia, Midface retrusion, Short femur, Fibular bowi...	OMIM:613848
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap...	ORPHA:370010
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormal rib morphology...	ORPHA:3268
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Selective tooth agenesis, Micrognathia, Supraventricular arrhythmia, Neoplasm ...	ORPHA:2959
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Orofaciodigital Syndrome Type 10	Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu...	ORPHA:2756
Dysostosis, Stanescu Type	Brachycephaly, Convex nasal ridge, Increased bone mineral density, Midface retrusion, Pectus exca...	ORPHA:1798
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Abdominal distention...	OMIM:600972
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Micrognathia, Biparietal narrowing, Hip dislocation, Prominent...	ORPHA:99776
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup...	ORPHA:166272
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Short stature, Increased bone mineral density, Relative macrocephaly, Short humerus, Ma...	OMIM:239000
Ovarian Dysgenesis 6	Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o...	OMIM:618078
Pierpont Syndrome	Broad foot, Decreased body weight, Prominent subcalcaneal fat pad, Everted lower lip vermilion, S...	OMIM:602342
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Frontal bossing, Slender long bone, Abnormal rib morphology, Abnormal pelvic girdle bone morphology	ORPHA:1506
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol...	ORPHA:1106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr...	ORPHA:457395
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S...	ORPHA:85169
Brachyolmia Type 1, Hobaek Type	Short femoral neck, Kyphosis, Short long bone, Squared-off platyspondyly, Flat acetabular roof, S...	OMIM:271530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Horizontal ribs, Bifid tongue, Hypoplastic facial bones, Midface retrusion, Unicoron...	OMIM:616300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Genu varum, Abnormality of the knee, Genu valgum, Coxa vara, Short stature, Abnormality of the ep...	ORPHA:166002
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor	OMIM:611105
Crane-Heise Syndrome	Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Depressed nasal bridge, Decre...	ORPHA:1512
Spondyloepimetaphyseal Dysplasia, Shohat Type	Thoracic hypoplasia, Squared-off platyspondyly, Hepatosplenomegaly, Limb undergrowth, Delayed epi...	ORPHA:93352
Isotretinoin Syndrome	Micrognathia, Biparietal narrowing, Spina bifida occulta, Depressed nasal bridge, Cleft palate	ORPHA:2305
Distal Trisomy 5Q	Absent thumb, Long philtrum, Short stature, Aplasia/Hypoplasia of the gallbladder, Hypoplasia of ...	ORPHA:96097
Myotonia Congenita, Autosomal Dominant	Myotonia, Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm...	OMIM:160800
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,...	ORPHA:168563
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging of the costochondral junction, Wide nasal bridge, Delayed eruption of t...	OMIM:277440
Epiphyseal Dysplasia, Multiple, 1	Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe...	OMIM:132400
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone...	ORPHA:1802
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Lateral cla...	ORPHA:1801
Ivic Syndrome	Absent thumb, Short femur, Thrombocytopenia, Short 1st metacarpal, Carpal synostosis, Carpal bone...	OMIM:147750
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,...	OMIM:618728
Ulnar Hypoplasia	Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ...	OMIM:191440
Hall-Riggs Syndrome	Prominent nose, Wide nasal bridge, Delayed eruption of teeth, Short stature, Thick vermilion bord...	ORPHA:2107
Osteolysis Syndrome, Recessive	Knee flexion contracture, Short stature, Abnormal foot morphology, Elbow flexion contracture, Met...	OMIM:259610
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Cutis marmorata, Congenita...	OMIM:619719
Premature Ovarian Failure 7	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Slc35A2-Cdg	Short tibia, Camptodactyly of finger, Hip subluxation, Gastroesophageal reflux, Coxa valga, Abnor...	ORPHA:356961
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Hepatomegaly, Talipes equinovarus, Shor...	OMIM:620076
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility	OMIM:276821
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Brachycephaly, Absent thumb, Coxa valga, Patellar dislocation, Micrognat...	OMIM:274000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Tube feeding, Thoracic hypoplasia, Long philtrum, Wide nasal bridge, Short long bone, Short lingu...	OMIM:619479
Digital Arthropathy-Brachydactyly, Familial	Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio...	OMIM:606835
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt...	ORPHA:93356
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu...	ORPHA:34516
Chondrodysplasia Punctata 1, X-Linked Recessive	Short stature, Hypogonadism, Epiphyseal stippling, Short nose, Depressed nasal bridge, Abnormalit...	OMIM:302950
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Delayed pub...	ORPHA:432
Intermediate Osteopetrosis	Increased susceptibility to fractures, Back pain, Dental malocclusion, Osteomyelitis, Recurrent f...	ORPHA:210110
Peho Syndrome	Pedal edema, Tapered finger, Biparietal narrowing, Midface retrusion, Abnormal upper lip morpholo...	ORPHA:2836
Trichorhinophalangeal Syndrome, Type Iii	Short phalanx of finger, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epi...	OMIM:190351
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Larsen-Like Syndrome	Brachycephaly, Dental malocclusion, Wide anterior fontanel, Absent nasal bridge, Short stature, M...	OMIM:608545
Dystonia, Juvenile-Onset	Cleft upper lip, Achalasia, Femoral retroversion, Small for gestational age, Pseudobulbar paralys...	OMIM:607371
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Syndactyly, Split foot, Short finger, Hypoplasia of the ulna	OMIM:314360
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,...	OMIM:611263
Perrault Syndrome 4	Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Smith-Lemli-Opitz Syndrome	2-3 toe syndactyly, Bifid tongue, Wide nasal bridge, Micrognathia, Feeding difficulties in infanc...	ORPHA:818
Diastrophic Dysplasia	Camptodactyly of finger, Micrognathia, Increased bone mineral density, Midface retrusion, Elbow d...	ORPHA:628
Acrorenal-Mandibular Syndrome	Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ...	OMIM:200980
Anauxetic Dysplasia 3	Hip subluxation, Plagiocephaly, Midface retrusion, Pectus excavatum, Beaking of vertebral bodies,...	OMIM:618853
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm...	ORPHA:93308
Episodic Ataxia With Slurred Speech	Gait ataxia, Slurred speech, Tremor	ORPHA:401953
Diamond-Blackfan Anemia 11	Absent thumb, Anemia, Neutropenia, Forearm reduction defects, Short stature, Hypoplasia of the ra...	OMIM:614900
Premature Ovarian Failure 13	Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, 2-5 finger syndactyly, Absent toe, Shor...	OMIM:308050
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short phalanx of finger, Thick upper lip vermilion, Thoracic hypoplasia, Wide nasal bridge, Rhizo...	OMIM:611717
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Micromelia, Abnormal pel...	ORPHA:474
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Decreased body weight, High palate, Joint contracture of the hand, Short stature, ...	OMIM:600325
Multiple Epiphyseal Dysplasia, Beighton Type	Pedal edema, Flattened femoral head, Flat capital femoral epiphysis, Thoracic platyspondyly, Abno...	ORPHA:166011
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal fo...	ORPHA:93307
Cohen Syndrome	Convex nasal ridge, Tapered finger, Micrognathia, Feeding difficulties in infancy, Lumbar hyperlo...	OMIM:216550
Chromosome 20Q11-Q12 Deletion Syndrome	Feeding difficulties in infancy, Camptodactyly, Midface retrusion, Short philtrum, Frontal bossin...	OMIM:614257
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor...	ORPHA:79262
Seckel Syndrome 7	Central hypothyroidism, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip d...	OMIM:614851
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Abnormal thorax morphology, Midface retrusion, Bone marrow hypocellula...	ORPHA:508542
Harrod Syndrome	Dental malocclusion, High palate, Kyphosis, Long nose, Abnormal pelvic girdle bone morphology, Fa...	ORPHA:2115
Multiple Synostoses Syndrome	Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br...	ORPHA:3237
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin...	ORPHA:363417
Premature Ovarian Failure 3	Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus	OMIM:608996
Autosomal Recessive Omodysplasia	Rhizomelia, Short stature, Long philtrum, Micrognathia, Abnormal morphology of the radius, Short ...	ORPHA:93329
3Q29 Microduplication Syndrome	High palate, Wide nasal bridge, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Biparietal n...	ORPHA:251038
Perrault Syndrome 3	Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy...	OMIM:614129
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Cutaneous photosensitivity, Mandibular prognathia, Prominent nose, High palate, Wide nasal bridge...	ORPHA:2180
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl...	OMIM:618870
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Short stature, Small for gestational age, Micrognathia, Failure to thrive, Mic...	OMIM:612626
Orofaciodigital Syndrome Ix	Short tibia, High palate, Short stature, Toe syndactyly, Hand polydactyly, Camptodactyly, Median ...	OMIM:258865
Brachydactyly, Type A1, B	Broad distal hallux, Short 5th metacarpal, Short stature, Clinodactyly, Cone-shaped epiphyses of ...	OMIM:607004
Ruvalcaba Syndrome	Short phalanx of finger, Underdeveloped nasal alae, Short foot, Kyphosis, Short metacarpal, Small...	OMIM:180870
Acromicric Dysplasia	Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln...	OMIM:102370
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Hypertrophic cardiomyopathy, Hepatomegaly, Weight loss, Short ribs, Frontal bossing, Ab...	ORPHA:1842
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,...	ORPHA:2804
Craniofrontonasal Dysplasia	Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Orofa...	ORPHA:1520
Andersen Cardiodysrhythmic Periodic Paralysis	Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,...	OMIM:170390
Atkin-Flaitz Syndrome	Macroorchidism, Short stature, Thick vermilion border, Maxillary lateral incisor microdontia, Eve...	ORPHA:1193
Summitt Syndrome	Camptodactyly of finger, Wide nose, Genu valgum, Short 4th metacarpal, Finger syndactyly, Depress...	ORPHA:3210
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short phalanx of finger, Horizontal ribs, Thoracic dysplasia, Early ossification of capital femor...	OMIM:208500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost...	OMIM:614841
Achondrogenesis, Type Ii	Hypoplastic iliac wing, Horizontal ribs, Brachycephaly, Short tubular bones of the hand, Long phi...	OMIM:200610
Lethal Kniest-Like Dysplasia	Abnormality of the ischium, Mesomelic/rhizomelic limb shortening, Hypoplastic ilia, Short ribs, W...	ORPHA:2347
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short stature, Abnormality of the ovary, Short philtrum, Brac...	ORPHA:247768
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Acrodysostosis 2 With Or Without Hormone Resistance	Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta...	OMIM:614613
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar...	OMIM:277320
Fetal Alcohol Syndrome	Non-midline cleft lip, Short stature, Vertebral segmentation defect, Micrognathia, Biparietal nar...	ORPHA:1915
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Hydrocele testis, Adducted thumb, Brachydactyly, Notched primary central incisor	OMIM:620062
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Prominent interdigital folds, Short first metatarsal,...	OMIM:601957
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Elbow flexion contracture, Hip dislocation, Prominent occiput, Short femur, Elbow d...	OMIM:210710
Camptomelic Syndrome, Long-Limb Type	Micromelia	OMIM:211990
Beaulieu-Boycott-Innes Syndrome	Dental malocclusion, Premature ovarian insufficiency, Micrognathia, Velopharyngeal insufficiency,...	OMIM:613680
Hallermann-Streiff Syndrome	Brachycephaly, Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermil...	OMIM:234100
Ovarian Dysgenesis 5	Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary...	OMIM:617690
Atkin-Flaitz Syndrome	Macroorchidism, Genu valgum, Tapered finger, Short stature, Prominent median palatal raphe, Thick...	OMIM:300431
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Bulging of the costochondral junction, Delayed eruption of teeth, Sparse bone t...	OMIM:264700
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti...	OMIM:305620
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Orofaciodigital Syndrome Xviii	Genu valgum, Wide nasal bridge, Short stature, Short philtrum, Diastema, Cervical ribs, Accessory...	OMIM:617927
Shox-Related Short Stature	Genu valgum, High palate, Short foot, Short stature, Micrognathia, Lower limb undergrowth, Cubitu...	ORPHA:314795
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Knee flexion contracture, 2-3 toe syndactyly, Vomiting, Hip contracture, High palate, Toe syndact...	OMIM:616809
Potocki-Lupski Syndrome	Dental malocclusion, Gastroesophageal reflux, Mandibular prognathia, High palate, Short stature, ...	OMIM:610883
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C...	ORPHA:2839
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Abnormal circulating calcium concentration, Memory impairment, Abnormal pyramidal sign, D...	OMIM:213600
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Limb undergrowth, Depressed nasal ridge, Micromelia	OMIM:601016
Fanconi Anemia, Complementation Group S	Underdeveloped nasal alae, Dental malocclusion, Anemia, Thick upper lip vermilion, Narrow palate,...	OMIM:617883
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Feeding difficulties in infancy, Large for gestational age, Macroglo...	ORPHA:226313
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Short stature, Bicornuate uterus, Micrognathia, Azoospermia, Cleft palate, Hypop...	OMIM:601076
Baller-Gerold Syndrome	Brachycephaly, Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of...	OMIM:218600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange...	OMIM:618167
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short ribs, Short long bone, Coarse metaphyseal trabecularization, Short nose, Depressed nasal br...	OMIM:618961
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Hip osteoarthritis, Flattened femoral head, Disproportionate short-trunk short s...	ORPHA:99642
Orofaciodigital Syndrome Iv	Short tibia, Lobulated tongue, High palate, Short stature, Tongue nodules, Toe syndactyly, Microg...	OMIM:258860
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Opsismodysplasia	Tapered finger, Hypoplastic pubic bone, Severe short stature, Macrocephaly, Hypoplastic vertebral...	ORPHA:2746
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Prominent nose, Narrow palate, Wide nasal bridge, Relative macrocephaly, M...	OMIM:617169
Keipert Syndrome	Short stature, Macrocephaly, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Tented up...	ORPHA:2662
Cri-Du-Chat Syndrome	Wide nasal bridge, Premature graying of hair, Feeding difficulties in infancy, Bifid uvula, Metat...	OMIM:123450
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Short stature, Biparietal narrowing, Clinodactyly of the 5th finger, S...	ORPHA:2031
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna	ORPHA:1122
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol...	ORPHA:2631
Joubert Syndrome	Foot polydactyly, Feeding difficulties in infancy, Biparietal narrowing, Hand polydactyly, Scolio...	ORPHA:475
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con...	ORPHA:1540
Paramyotonia Congenita Of Von Eulenburg	Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Feeding difficulties, Han...	OMIM:168300
Mesomelic Dysplasia, Savarirayan Type	Short tibia, Short stature, Abnormal foot morphology, Abnormal thorax morphology, Hip dislocation...	OMIM:605274
Postaxial Acrofacial Dysostosis	Conical tooth, Supernumerary vertebrae, Cleft upper lip, Abnormal foot morphology, Micrognathia, ...	OMIM:263750
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Midface retrusion, Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short d...	ORPHA:2776
Fibular Aplasia-Complex Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short stature, Synostosis of carpal bones, Abnormal morphology ...	ORPHA:2639
Clark-Baraitser syndrome	Macroorchidism, Genu valgum, Tapered finger, Prominent median palatal raphe, Thick lower lip verm...	OMIM:300602
Kabuki Syndrome 2	Short 5th finger, Decreased body weight, Micrognathia, Feeding difficulties in infancy, Hip dislo...	OMIM:300867
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Dental malocclusion, Short stature, Micrognathia, Diastema, Broad colu...	ORPHA:436245
Sclerosteosis 1	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cra...	OMIM:269500
Nicolaides-Baraitser Syndrome	Everted lower lip vermilion, Smooth philtrum, Short palm, Thick nasal alae, Clubbing of toes, Mic...	ORPHA:3051
Satoyoshi Syndrome	Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Short stature, Br...	OMIM:600705
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Epiphyseal dysplasia, Ir...	OMIM:609325
Shprintzen-Goldberg Craniosynostosis Syndrome	Minimal subcutaneous fat, Micrognathia, Feeding difficulties in infancy, Camptodactyly, Metatarsu...	OMIM:182212
Spinocerebellar Ataxia 43	Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor	OMIM:617018
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Feingold Syndrome Type 2	Short stature, Toe syndactyly, Microcephaly, Brachydactyly, Short thumb, Short middle phalanx of ...	ORPHA:391646
Dystonia 11, Myoclonic	Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Anxiety, Agoraphobia, Panic attack	OMIM:159900
Martsolf Syndrome 1	Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Cardiac arrest, Micrognathia,...	OMIM:212720
Turnpenny-Fry Syndrome	Brachycephaly, Decreased body weight, Tapered finger, Plagiocephaly, Microdontia, Prominent nasal...	OMIM:618371
Joubert Syndrome With Ocular Defect	Foot polydactyly, Biparietal narrowing, Hand polydactyly, Abnormal vertebral morphology, Scoliosi...	ORPHA:220493
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Genu valgum, Upper limb undergrowth, Broad foot, Abnormal carpal morphology, Co...	ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t...	ORPHA:1836
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Microcephaly, Abnormal nasal base norpholog...	ORPHA:1919
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Fasciculations	OMIM:615048
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, F...	ORPHA:1278
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Beaking of vertebral bo...	OMIM:177170
Langer Mesomelic Dysplasia	Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog...	ORPHA:2632
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia	ORPHA:168555
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Short stature, Premature ovarian insufficiency, Ulnar deviation of finge...	ORPHA:2928
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br...	OMIM:258315
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Carpenter Syndrome 1	Brachycephaly, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared...	OMIM:201000
Ruvalcaba Syndrome	Convex nasal ridge, Synostosis of carpal bones, Short nose, Delayed puberty, Narrow mouth, Proxim...	ORPHA:3121
Mesomelia-Synostoses Syndrome	Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ...	ORPHA:2496
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly	ORPHA:35099
Juberg-Hayward Syndrome	Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th...	ORPHA:2319
Metaphyseal Dysplasia Without Hypotrichosis	Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse...	OMIM:250460
Brachydactyly Type C	Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Short stature, Complete dup...	ORPHA:93384
Opsismodysplasia	Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short palm, Hypoplas...	OMIM:258480
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormality of the philtrum, Short foot, Kyphosis, Hypogonadism, Toe syn...	ORPHA:3409
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Osteogenesis Imperfecta	Brachycephaly, Convex nasal ridge, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, ...	ORPHA:666
Microphthalmia With Limb Anomalies	Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ...	OMIM:206920
Pelvis-Shoulder Dysplasia	Hypoplastic acetabulae, Hypoplastic ilia, Short stature, Clinodactyly of the 5th finger, Spina bi...	OMIM:169550
Van Maldergem Syndrome 1	Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Midfac...	OMIM:601390
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Micrognathia, Increased bone mineral density, Short neck, Flattened epiphysis, Ovoid ...	ORPHA:163649
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, A...	OMIM:602196
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped...

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