Gene Summary

Name:
natriuretic peptide receptor 2
Synonyms:
cn,  guanylyl cyclase-B,  pwe

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal forelimb morphology Npr2em1(IMPC)H HOM Early adult 3.97×10-13
preweaning lethality, incomplete penetrance Npr2em1(IMPC)H HOM   Early adult 0.00
abnormal hindlimb morphology Npr2em1(IMPC)H HOM Early adult 3.97×10-13
tremors Npr2em1(IMPC)H HOM Early adult 9.76×10-09
abnormal tail length Npr2em1(IMPC)H HOM Early adult 1.31×10-10
trunk curl Npr2em1(IMPC)H HOM Early adult 1.18×10-09
abnormal locomotor behavior Npr2em1(IMPC)H HOM Early adult 1.03×10-10
abnormal tail morphology Npr2em1(IMPC)H HET Early adult 1.51×10-08
abnormal head size Npr2em1(IMPC)H HOM Early adult 3.87×10-08
abnormal snout morphology Npr2em1(IMPC)H HOM Early adult 6.34×10-07
impaired cued conditioning behavior Npr2em1(IMPC)H HOM Early adult 3.26×10-05
limb grasping Npr2em1(IMPC)H HOM Early adult 1.47×10-09
increased grip strength Npr2em1(IMPC)H HET   Early adult 7.41×10-06
increased freezing behavior Npr2em1(IMPC)H HOM Early adult 1.73×10-09
abnormal gait Npr2em1(IMPC)H HOM Early adult 9.20×10-07
abnormal head morphology Npr2em1(IMPC)H HOM Early adult 5.95×10-12
abnormal tail morphology Npr2em1(IMPC)H HOM Early adult 3.97×10-13
decreased circulating alkaline phosphatase level Npr2em1(IMPC)H HOM Early adult 3.56×10-07
abnormal snout morphology Npr2em1(IMPC)H HET Early adult 2.01×10-05

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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

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof... OMIM:269250
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,... ORPHA:950
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Omodysplasia 2
Dislocated radial head, Bifid nasal tip, Dyspareunia, Broad femoral neck, Short humerus, Long phi... OMIM:164745
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac... ORPHA:1856
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Abnormal form of the vertebral bodies, Mandibular... ORPHA:2831
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me... ORPHA:1452
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phal... OMIM:210720
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Abnormal carpal morphology, Platyspondyly, Narrow chest, Disproportionate s... ORPHA:85166
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Everted lower lip vermilion, Kyphosis, Hypopl... ORPHA:2616
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Microcephaly, Hypoplastic facial bones, Metaph... OMIM:607326
Autosomal Dominant Omodysplasia
Short nose, Ambiguous genitalia, Rhizomelia, Hypoplasia of penis, Elbow dislocation, Bifid scrotu... ORPHA:93328
Achondrogenesis, Type Ia
Hypoplastic sacrum, Turricephaly, Broad clavicles, Abnormal hand bone ossification, Short ribs, D... OMIM:200600
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D... OMIM:155050
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Short greater sciatic notch, Wide-cupped costochondral... OMIM:187600
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Sin... OMIM:616716
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte... OMIM:612350
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short... OMIM:166250
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati... OMIM:160120
Rhizomelic Chondrodysplasia Punctata, Type 2
Microcephaly, Short humerus, Knee contracture, Rhizomelia, Anteverted nares, Scoliosis, Short sta... OMIM:222765
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Frontal bossing,... ORPHA:440354
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Flared metaphysis, Short greater sciatic notch, Cloverleaf skull, Wi... OMIM:187601
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
X-Linked Intellectual Disability, Cabezas Type
Sandal gap, Cachexia, Kyphosis, Microcephaly, Wide mouth, Hypogonadism, Short philtrum, Scoliosis... ORPHA:85293
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Facial muscle hypertrophy, Percussion myotonia, Myotonia of the upper limb, Co... ORPHA:684
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... OMIM:227270
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Depression, Craniofacial dy... OMIM:619565
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal calvaria morphology, Pectu... ORPHA:3079
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Three M Syndrome 2
Pectus carinatum, Relative macrocephaly, Hyperlordosis, Prominent calcaneus, Severe short stature... OMIM:612921
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnorm... ORPHA:1005
Rubinstein-Taybi Syndrome 2
Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Low hangi... OMIM:613684
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Everted lower lip vermilion, D... ORPHA:357175
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Pectus carinatum, Coxa vara, Hypoplasia of the odontoid process, S... OMIM:184255
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Everted lower lip vermilion, D... OMIM:615162
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u... OMIM:249600
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Microcephaly, Short di... ORPHA:1327
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Pelviscapular Dysplasia
Macrocephaly, Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplasti... ORPHA:93333
Alpha-Mannosidosis
Narrow palate, Generalized abnormality of skin, Widely spaced teeth, Macrocephaly, Hepatomegaly, ... ORPHA:61
Acrocephalopolydactyly
Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Hepatosple... ORPHA:221054
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow palate, Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Sco... ORPHA:1323
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower li... ORPHA:56304
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Trigonocephaly, Wide ... OMIM:252500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os... OMIM:618395
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Abnormal clavicle morphol... ORPHA:1453
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower l... OMIM:600920
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist... OMIM:614091
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Platysp... OMIM:234250
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,... ORPHA:1858
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Disproportionate short-limb... OMIM:156530
Femoral-Facial Syndrome
Long philtrum, Abnormal fibula morphology, Scoliosis, Short stature, Aplasia/Hypoplasia of the ti... ORPHA:1988
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Lig4 Syndrome
Brachycephaly, Thin vermilion border, Acute leukemia, Hepatomegaly, Clinodactyly of the 5th finge... ORPHA:99812
Tetraploidy
Radial club hand, Short philtrum, Biparietal narrowing, Microcephaly, Micrognathia, Cleft palate,... ORPHA:3305
Pycnodysostosis
Disproportionate short-limb short stature, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acrom... ORPHA:763
Muenke Syndrome
Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Macrocephaly, C... OMIM:602849
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Serrate... OMIM:272440
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Hypochondroplasia
Limited elbow extension, Macrocephaly, Disproportionate short-limb short stature, Flared metaphys... OMIM:146000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Kyphosis, Split foot, Intrauterine growth retardation, Hip dislocation, Hypopla... ORPHA:958
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Antevert... ORPHA:217340
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Microcephaly, Unilateral cleft lip, Thoracic hypoplasia... OMIM:616897
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... ORPHA:750
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Anteverted nares, Mandibular prognathia, Relative macrocephaly, High palate, Long fingers, Dental... OMIM:618292
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Microcephaly, Short... ORPHA:2491
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Achondrogenesis Type 1A
Abdominal distention, Short nose, Macrocephaly, Narrow chest, Short thorax, Anteverted nares, Abn... ORPHA:93299
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular roof, Short metac... OMIM:617102
Image Syndrome
Depressed nasal bridge, Metaphyseal dysplasia, Hypogonadism, Micromelia ORPHA:85173
Campomelic Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate... OMIM:114290
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Genu... OMIM:100800
Fibrochondrogenesis 2
Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh... OMIM:614524
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Acromicric Dysplasia
Long philtrum, Short nose, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares... ORPHA:969
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Growth delay, Short stature, Malar flattening, Brachydactyly, Short 5th fing... ORPHA:52056
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Reduced bone mineral density, ... ORPHA:2370
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, High palate, Short foot, Obesity, Short 5th finger, Clinodactyly, Mac... OMIM:300577
8P23.1 Microdeletion Syndrome
Thin vermilion border, Short nose, Proximal placement of thumb, Enlarged thorax, High palate, Hyp... ORPHA:251071
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Intrauterine growth r... ORPHA:1292
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Tooth malposition, Distal ulnar hypoplasia, Micr... OMIM:277150
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Limb dystonia, Cognitive impairment, Impulsivity, Rigidity, Dysphagia, Clumsiness, Irrita... ORPHA:216873
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Brachydactyly, Type A1
Distal symphalangism of hands, Short metacarpal, Slender metacarpals, Short distal phalanx of fin... OMIM:112500
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Acrootoocular Syndrome
Kyphoscoliosis, Wide nasal base, Sandal gap, Short metacarpal, Small thenar eminence, Pectus exca... ORPHA:2980
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Mcdonough Syndrome
Bilateral single transverse palmar creases, Abnormal palate morphology, Short philtrum, Cachexia,... ORPHA:2471
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology, Growth delay... OMIM:259270
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short philtrum, Wide nose,... OMIM:607143
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Fibrochondrogenesis
Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Bell-shaped thorax,... ORPHA:2021
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Wide nose, Absent frontal sinuses, Dental crowding, Hypod... OMIM:253250
Orofaciodigital Syndrome Type 6
Mesoaxial polydactyly, Abnormal oral frenulum morphology, Syndactyly, Tongue nodules, Biparietal ... ORPHA:2754
Bullous Dystrophy, Hereditary Macular Type
Short finger, Microcephaly, Severe short stature, Acrocyanosis, Tapered finger OMIM:302000
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph... OMIM:619135
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... OMIM:212780
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Abdominal distention, Glenoid fossa hypoplasia, Hypoplastic iliac wing, S... OMIM:619345
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo... OMIM:601559
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo... ORPHA:15
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunc... ORPHA:401901
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Macrocephaly, Excessive wrinkled skin, Narrow chest, Short greate... ORPHA:1860
Craniosynostosis 3
Right unicoronal synostosis, Dental malocclusion, Bicoronal synostosis, Single transverse palmar ... OMIM:615314
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho... OMIM:251450
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Reduced bone mineral density, Short long bone, Flat acetabular roof, Abno... ORPHA:94068
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Long thorax, Tooth agenesis, Micrognath... ORPHA:1277
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Scoliosis, Short metacarpal, Hypoplasia of t... OMIM:226900
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ... ORPHA:2878
Tetrasomy X
Premature ovarian insufficiency, Clinodactyly of the 5th finger, Abnormality of the dentition, Br... ORPHA:9
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Female infertilit... OMIM:300604
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal finger morphology, Hyperlordosis, Large ilia... ORPHA:2511
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal ... OMIM:616331
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Short stature, Cleft palate, Broad nasal tip, Syndacty... OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel... OMIM:201170
16Q24.3 Microdeletion Syndrome
Solitary median maxillary central incisor, Proximal placement of thumb, Increased mean corpuscula... ORPHA:261250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly... OMIM:602557
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, 11 pairs of ribs, Narrow ch... ORPHA:140
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Monosomy 18Q
Kyphoscoliosis, Pectus excavatum, Left-to-right shunt, Aortic valve stenosis, Arachnodactyly, Mic... ORPHA:1600
Kyphomelic Dysplasia
Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy... OMIM:211350
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro... ORPHA:2632
Gombo Syndrome
Delayed puberty, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,... ORPHA:251028
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Short-Rib Thoracic Dysplasia 12
Short long bone, Short ribs, Splenomegaly, Intrauterine growth retardation, Short finger, Short t... OMIM:269860
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Intrauterine growth retardation, Cone-shaped e... ORPHA:439822
Trichorhinophalangeal Syndrome, Type I
Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox... OMIM:190350
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu... OMIM:218330
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Delayed pubic bone ossification, Disproportionate short-limb short ... OMIM:184250
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Flattened epiphysis, Thoracic hyp... OMIM:618363
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Dental malocclusion, Microcephaly, Short stature, Prominent nose, Hallux valgus OMIM:615541
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:255700
Acrocapitofemoral Dysplasia
Macrocephaly, Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus exca... ORPHA:63446
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, Microcephaly, Cutis marmorata, Intrauterine ... OMIM:300590
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Toluene Embryopathy
Thin vermilion border, Short nose, Biparietal narrowing, Microcephaly, Short stature, Micrognathi... ORPHA:1920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Short long bone, Femoral bowing, Relative macrocephaly... OMIM:618019
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Prominent occiput, Tib... OMIM:108721
Microcephaly-Micromelia Syndrome
Convex nasal ridge, Wide nose, Narrow chest, Oligodactyly, Narrow mouth, Forearm undergrowth, Mic... OMIM:251230
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco... ORPHA:2501
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Long p... OMIM:257850
Perching Syndrome
Scoliosis, High palate, Camptodactyly, Dysphagia, Feeding difficulties, Cyanosis, Depressed nasal... OMIM:617055
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Mild short stature, Sandal gap, Short hallux, Absent dorsal skin creases ove... OMIM:618167
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Non-midline cleft of the upper lip, Abnormality of th... ORPHA:1770
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Decreased s... OMIM:215140
Anauxetic Dysplasia 2
Cubitus valgus, Relative macrocephaly, Hyperlordosis, Thoracolumbar kyphoscoliosis, Hypoplasia of... OMIM:617396
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Tricuspid regurgitation, Biparietal narrowing, ... ORPHA:228396
Roifman Syndrome
Bilateral single transverse palmar creases, Biconvex vertebral bodies, Microcephaly, Long philtru... ORPHA:353298
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Craniosynostosis-Mental Retardation-Clefting Syndrome
Orofacial cleft, Craniosynostosis, Forearm undergrowth, Microcephaly, Lower limb undergrowth, Con... OMIM:218650
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, G... ORPHA:1876
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho... ORPHA:2634
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Frontal bossing, Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Non-Distal Deletion 10Q
Bilateral single transverse palmar creases, Overlapping fingers, Clinodactyly of the 5th finger, ... ORPHA:1581
Lathosterolosis
Microcephaly, Abnormal platelet morphology, Long philtrum, Intrauterine growth retardation, Intra... ORPHA:46059
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Cardiofaciocutaneous Syndrome
Pectus excavatum, Pulmonic stenosis, Long philtrum, Deep palmar crease, Excessive wrinkled skin, ... ORPHA:1340
Cutis Laxa, Autosomal Recessive, Type Iie
Pectus excavatum, Syndactyly, Long philtrum, Craniosynostosis, Genu varum, Hip dislocation, Coppe... OMIM:619451
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Turricephaly, Proximal tibial and fibular fusion, Femoral bo... ORPHA:95699
Codas Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Broad skull,... OMIM:600373
Alagille Syndrome
Delayed puberty, Long nose, Abnormal form of the vertebral bodies, Hypertension, Cholestasis, Sho... ORPHA:52
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar... ORPHA:93329
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short long bone, Femoral bowing, Short ribs, Absent tibia, Thoracic hypoplasia, Cone-shaped epiph... OMIM:613091
Cranioectodermal Dysplasia
Prominent occiput, Everted lower lip vermilion, Microdontia, Pectus excavatum, Short distal phala... ORPHA:1515
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures... ORPHA:210110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Short nose, Lambdoidal craniosynostosis, Brachycephaly, Macro... OMIM:615398
Momo Syndrome
Abnormal bone ossification, Wide nasal base, Femoral bowing, Cutis marmorata, Long philtrum, Taur... ORPHA:2563
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... ORPHA:1106
Pierpont Syndrome
Deep plantar creases, Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Prom... OMIM:602342
Roifman Syndrome
Biconvex vertebral bodies, Short metacarpal, Microcephaly, Irregular femoral epiphysis, Splenomeg... OMIM:616651
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Failu... OMIM:608154
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Lat... ORPHA:3144
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula... ORPHA:1801
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... OMIM:143095
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Microcephaly, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous sy... ORPHA:370010
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short stature, Short distal phalanx of finger, Type B brach... ORPHA:1471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, O... ORPHA:1248
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Anteverted nares, Short stature, Micrognathia, Cleft p... ORPHA:2015
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Abnormal p... ORPHA:1190
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Decreased b... OMIM:618392
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Narrow nasal bridge, Syn... ORPHA:2639
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder... ORPHA:1350
Vitamin D-Dependent Rickets, Type 2A
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R... OMIM:277440
Developmental Malformations-Deafness-Dystonia Syndrome
Orofacial cleft, Femoral retroversion, Scoliosis, Hypoplastic scapulae, Micromelia, Kyphosis, Sho... ORPHA:79107
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Thoracic... ORPHA:93352
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, T lymphocytopenia, Generalized osteoporosis, Microceph... ORPHA:2959
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Abd... OMIM:600972
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar deviat... ORPHA:2928
Mosaic Trisomy 9
Rocker bottom foot, Deep plantar creases, Abnormal liver lobulation, Prominent occiput, Microceph... ORPHA:99776
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow nasal ridge, Microdontia, Wide mouth, Short distal phalanx of finger, Short philtrum, Tali... OMIM:619293
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pulmonic stenosis, Lo... OMIM:617877
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Platyspondyly, Dela... ORPHA:166272
Slc35A2-Cdg
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi... ORPHA:356961
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Narrow mouth... ORPHA:96097
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Frontal bossing, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Osteogenesis Imperfecta, Type X
Tibial bowing, Relative macrocephaly, Dentinogenesis imperfecta, Thoracic hypoplasia, Broad ribs,... OMIM:613848
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Macrocephaly, Barrel-shaped chest, Increased bone mineral density, Premature loss of ... OMIM:239000
Rothmund-Thomson Syndrome
Aplastic anemia, Reduced bone mineral density, Microdontia, Palmar hyperkeratosis, Plantar hyperk... ORPHA:2909
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Left ventricular systolic dysfunction, Scoliosis, Incisor macrodontia, C... OMIM:619719
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Narrow chest, Bowed humerus, Tube feeding, Disproportionate short-limb short... OMIM:619479
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Isotretinoin Syndrome
Spina bifida occulta, Biparietal narrowing, Micrognathia, Cleft palate, Depressed nasal bridge ORPHA:2305
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Crane-Heise Syndrome
Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormally ossified vertebrae,... ORPHA:1512
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ... ORPHA:2107
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ... ORPHA:166002
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Scoliosis, Kyphosis, Epiphy... ORPHA:420794
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri... ORPHA:83451
Larsen-Like Syndrome
Brachycephaly, Kyphoscoliosis, Macrocephaly, Clinodactyly of the 5th finger, Wide anterior fontan... OMIM:608545
Ruvalcaba Syndrome
Short metatarsal, Underdeveloped nasal alae, Short metacarpal, Micromelia, Short palm, Short phal... OMIM:180870
Bent Bone Dysplasia Syndrome 2
Hypoplastic iliac wing, Femoral bowing, Short ribs, Relative macrocephaly, Short lower limbs, Int... OMIM:620076
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis... OMIM:147750
Chromosome 20Q11-Q12 Deletion Syndrome
Short philtrum, Tarsal osteovalgus, Camptodactyly, Frontal bossing, Brachydactyly, Intrauterine g... OMIM:614257
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom... OMIM:160800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Relative macroce... OMIM:616300
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Hammertoe, Fasciculations, Tremor, Elevated circulating creatine kinase conce... OMIM:615048
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Dysostosis, Stanescu Type
Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Microcephaly, Massively thickened long... ORPHA:1798
3Q29 Microduplication Syndrome
Macrocephaly, Sandal gap, High palate, Abnormality of the dentition, Biparietal narrowing, Campto... ORPHA:251038
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Micromelia ORPHA:168555
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Split foot, Intrauterine growth retardation, Hip dislocation, Hypoplasia of the u... OMIM:200980
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Proximal placement of thumb, Abnormal form of the vertebral bodie... ORPHA:818
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Scoliosis, 4-5 toe syndactyly, Short stat... OMIM:308050
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased ... ORPHA:34516
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S... OMIM:618728
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short long bone, Flat acetabular roof, Short ribs, Hypertension, Hypoplastic ischia, Iliac crest ... OMIM:613320
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Gastroesophageal reflux, Dental crowding, Mandibular prognathia, Promi... OMIM:610883
Dystonia-Deafness Syndrome 1
Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl... OMIM:607371
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... OMIM:611263
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Macrocephaly, Oligodontia, High palate, Decreased body weight, Intrauterine growth... OMIM:600325
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Macrocephaly, Sandal gap, Abnormal form of the vertebral bodies, Cutaneous photosensitivity, Abno... ORPHA:2180
Peho Syndrome
Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Biparietal narrowi... ORPHA:2836
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect... OMIM:618870
Harrod Syndrome
Long nose, Abnormal shoulder morphology, Hypospadias, Scoliosis, High palate, Abnormal pelvic gir... ORPHA:2115
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Hypospadias, Anteverted nares, Mandibular prognathia, Short metacar... OMIM:614613
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda... ORPHA:294975
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Short stature, Brachydactyly, Adducted thumb, Hydrocele testis OMIM:620062
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Abnormality of the vertebral column, Epiphyseal stippling, Anosmi... OMIM:302950
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Thoracic p... ORPHA:166011
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, Abdominal pain, 2-3 toe syn... OMIM:616809
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Anauxetic Dysplasia 3
Retrognathia, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Severe short stat... OMIM:618853
Chromosome 15Q26-Qter Deletion Syndrome
Intrauterine growth retardation, Microcephaly, Failure to thrive, Micrognathia, Short middle phal... OMIM:612626
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Orofaciodigital Syndrome Ix
Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Microcephaly, Short st... OMIM:258865
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec... ORPHA:628
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu... ORPHA:2804
Cohen Syndrome
Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Microcephaly, Leukopenia, Neu... OMIM:216550
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses... OMIM:222600
Craniofrontonasal Dysplasia
Sandal gap, Pectus excavatum, Microcephaly, Craniosynostosis, Abnormal clavicle morphology, Scoli... ORPHA:1520
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Summitt Syndrome
Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Macrocephaly, W... ORPHA:3210
Hallermann-Streiff Syndrome
Hypertension, Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Microcephaly, Thin ca... OMIM:234100
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors... ORPHA:363417
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Acromicric Dysplasia
Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho... OMIM:102370
Intellectual Developmental Disorder, Autosomal Recessive 74
Narrow palate, Macrocephaly, Mandibular prognathia, Relative macrocephaly, Dolichocephaly, Brachy... OMIM:617169
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Short metacarpal, Trigonocephaly, Bone marrow hypocellularity, Short humerus, Le... ORPHA:508542
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R... OMIM:264700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Prominent occiput, Bifid first metacarpal, Femoral bowing, Short metacarpal,... OMIM:210710
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Bone Dysplasia, Lethal Holmgren Type
Abnormal femur morphology, Short ribs, Nausea and vomiting, Abnormal epiphysis morphology, Abnorm... ORPHA:1842
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Brachycephaly, Abnormal foot morphology, Barrel-shap... OMIM:200610
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Fanconi Anemia, Complementation Group S
Narrow palate, Anemia, Proximal placement of thumb, Anteverted nares, Underdeveloped nasal alae, ... OMIM:617883
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Carious teeth, Velopharyngeal insufficiency, Micr... OMIM:613680
Fetal Alcohol Syndrome
Short nose, Non-midline cleft of the upper lip, Anteverted nares, Vertebral segmentation defect, ... ORPHA:1915
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Myoclonus, Motor deterioration,... ORPHA:79262
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal... OMIM:601957
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Short philtrum, Abnormal vagina morphology, Abnormality of th... ORPHA:247768
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri... OMIM:277320
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Narrow chest, Flared metaph... ORPHA:2347
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Short metacarpal, Long philtrum, Short finger, Scoliosis, Short stature, Short p... OMIM:190351
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... ORPHA:1193
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent... OMIM:170390
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... ORPHA:314795
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Glossoptosis, Biparietal narrowing,... ORPHA:2031
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P... OMIM:617927
Baller-Gerold Syndrome
Limited elbow movement, Anomalous splenoportal venous system, Turricephaly, Carpal bone aplasia, ... OMIM:218600
Feingold Syndrome Type 2
Microcephaly, Short stature, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe synd... ORPHA:391646
Cri-Du-Chat Syndrome
Premature graying of hair, Short metacarpal, Microcephaly, Bifid uvula, Syndactyly, Short philtru... OMIM:123450
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Pectus excavatum, Foot polydactyl... OMIM:258860
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Short hallux, Exagg... ORPHA:2662
Joubert Syndrome
Orofacial cleft, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Biparietal n... ORPHA:475
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Depression, Confusion, Tremor, Myocl... OMIM:615362
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Mandibular condyle hypoplasia, Dental crowding, Temporomandi... OMIM:614669
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Narrow chest, Anteverted nares, Sh... OMIM:618961
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Sandal gap, Abnormal finger morphology, Everted lower lip vermili... ORPHA:3051
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Short stature, Cleft upper lip, Micrognathia, Cleft palate, Hypop... OMIM:601076
Migraine, Familial Hemiplegic, 1
Agitation, Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Brachyturricephaly, Pectus excavatum, Microcephaly, Ara... OMIM:182212
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Microcephaly,... OMIM:212720
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Brachydactyly ORPHA:35099
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Hyperphenylalaninemia, Microcephaly, Dystonia, Dysphagia, Progr... OMIM:261630
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Relative macrocephaly, Thorac... OMIM:618371
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Flat occiput, Macrocephaly, Hepatomegaly, Narrow ches... ORPHA:2746
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Abnormal foot mor... OMIM:263750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Severe short stature, Abnormality of the hand, Hump-shaped mound of bone in c... ORPHA:99642
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology... ORPHA:2631
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Large for gestational age, Bradycardia, Absent ossification of capital femo... ORPHA:226313
Joubert Syndrome With Ocular Defect
Orofacial cleft, Abnormal vertebral morphology, Anteverted nares, Scoliosis, Biparietal narrowing... ORPHA:220493
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ... OMIM:213600
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Sclerosteosis 1
Sclerotic vertebral endplates, Irregular menstruation, Tooth malposition, Broad clavicles, Mandib... OMIM:269500
Kabuki Syndrome 2
Prominent fingertip pads, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Short... OMIM:300867
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u... ORPHA:1427
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal nasal base norphology, Microcephal... ORPHA:1919
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue... OMIM:300602
Paramyotonia Congenita
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Feeding difficulties, Parado... OMIM:168300
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Keipert Syndrome
Broad distal phalanx of finger, Macrocephaly, Wide nose, Exaggerated cupid's bow, Camptodactyly, ... OMIM:301026
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Everted lower lip vermilion, Cutis marmorata, Long philtrum, Intrauterine growth ... OMIM:620494
Jackson-Weiss Syndrome
Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Turricephaly, Short m... ORPHA:1540
Schaaf-Yang Syndrome
Rocker bottom foot, Retrognathia, Kyphosis, Hypogonadism, Clinodactyly, Scoliosis, Abnormality of... OMIM:615547
Neuralgic Amyotrophy
Narrow mouth, Scapular winging, Short stature, Sprengel anomaly, Upper limb amyotrophy, Cleft pal... ORPHA:2901
Bardet-Biedl Syndrome 5
Polydactyly, Obesity, Syndactyly, Hypogonadism, Brachydactyly OMIM:615983
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, High, narrow palate, Clinodactyly of the 5th finger, ... ORPHA:444002
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Macrocephaly, Pectus carinatum, Narrow mouth, Broad thumb, Hypopl... ORPHA:261295
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Hypertension, Cerebral ischemia, Microdontia, Hypoplastic pelvi... ORPHA:1830
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Inability to walk, Emotional lability, Tremor, Waddling gait, Inappropriate ... OMIM:616269
Omodysplasia 1
Disproportionate short-limb short stature, Limited knee extension, Short humerus, Long philtrum, ... OMIM:258315
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Hypocalcemic Vitamin D-Dependent Rickets
Femoral bowing, Tibial bowing, Cardiomyopathy, Splenomegaly, Genu varum, Rickets, Enlargement of ... ORPHA:289157
Ruvalcaba Syndrome
Delayed puberty, Proximal placement of thumb, Dental crowding, Pectus carinatum, Short metacarpal... ORPHA:3121
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Fr... ORPHA:1278
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Delayed ossification of carpal bones, Pectus excavatum... ORPHA:3010
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Dumbbell-... ORPHA:1836
Lessel-Kreienkamp Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Gastroesophageal reflux, Pulmonic stenosis, Fronta... OMIM:619149
Joubert Syndrome With Renal Defect
Orofacial cleft, Anteverted nares, Scoliosis, Biparietal narrowing, Hand polydactyly, Cleft palat... ORPHA:220497
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Short stature, Frontal bossing, Broad hallux, Short thumb, Brachydactyly, ... OMIM:165800
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Joubert Syndrome With Hepatic Defect
Orofacial cleft, Cirrhosis, Macrocephaly, Hepatomegaly, Anteverted nares, Scoliosis, Intrahepatic... ORPHA:1454
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Brachydactyly, Dental malocclusion OMIM:619692
20Q11.2 Microdeletion Syndrome
Short philtrum, Camptodactyly, Frontal bossing, Brachydactyly, Intrauterine growth retardation, A... ORPHA:444051
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Memory impairment, Depression, Chorea, Incoordination, Poor fin... ORPHA:157941
Tetralogy Of Fallot
Thin vermilion border, Clinodactyly of the 5th finger, Dolichocephaly, Abnormal nasal morphology,... ORPHA:3303
Osteogenesis Imperfecta
Intestinal obstruction, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bon... ORPHA:666
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Long philtrum, Abnormali... ORPHA:2496
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Opsismodysplasia
Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa... OMIM:258480
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epi... ORPHA:163649
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Short stature, Broad nasal tip, Short di... ORPHA:2776
Juberg-Hayward Syndrome
Hypoplasia of the radius, Orofacial cleft, Abnormal vertebral morphology, Abnormality of the wris... ORPHA:2319
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Stipp... ORPHA:93384
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies