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Gene: Npr2 MGI:97372

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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 System Allele Zyg Sex Life Stage P Value
abnormal tail morphology Npr2em1(IMPC)H HOM Early adult 4.02×10-13
decreased circulating alkaline phosphatase level Npr2em1(IMPC)H HOM   Early adult 2.58×10-07
abnormal snout morphology Npr2em1(IMPC)H HOM Early adult 6.40×10-07
tremors Npr2em1(IMPC)H HOM Early adult 9.89×10-09
abnormal tail morphology Npr2em1(IMPC)H HET Early adult 1.51×10-08
limb grasping Npr2em1(IMPC)H HOM Early adult 1.46×10-09
abnormal hindlimb morphology Npr2em1(IMPC)H HOM Early adult 4.02×10-13
abnormal head morphology Npr2em1(IMPC)H HOM Early adult 6.03×10-12
abnormal tail length Npr2em1(IMPC)H HOM Early adult 1.33×10-10
trunk curl Npr2em1(IMPC)H HOM Early adult 1.20×10-09
abnormal locomotor behavior Npr2em1(IMPC)H HOM Early adult 5.23×10-11
abnormal head size Npr2em1(IMPC)H HOM Early adult 3.91×10-08
abnormal snout morphology Npr2em1(IMPC)H HET Early adult 2.01×10-05
abnormal gait Npr2em1(IMPC)H HOM Early adult 9.29×10-07
abnormal forelimb morphology Npr2em1(IMPC)H HOM Early adult 4.02×10-13

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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.

Phenotype associated images not available

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Dolichocephaly, Ovoid vertebral... ORPHA:40
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Disproportionate short stature, Short toe, Short nose, Ov... OMIM:602875
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Broad hallux, Arachnodactyly, Long hallux, Scoliosis, Finger clinodactyly, Epiphyseal... 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 Similarity of
phenotypes		 Matching phenotypes Source
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Abnormality of pelvic girdle bone morphology, Osteopenia, Rhizomelia, Wide nasal bri... OMIM:222765
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Micromelia, Scoliosis, Short ... OMIM:250215
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Di... OMIM:223800
Acrodysostosis
Abnormality of the ulna, Irregular menstruation, Open bite, Cone-shaped epiphysis, Micromelia, Sh... ORPHA:950
Multiple Epiphyseal Dysplasia With Robin Phenotype
Broad nasal tip, Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachyda... OMIM:601560
Omodysplasia 2
Long philtrum, Dislocated radial head, Rhizomelic arm shortening, Cryptorchidism, Micropenis, Lim... OMIM:164745
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Depressed nasal ridge, Short 4th metacarpal, Epiphyseal stippling, Midfa... OMIM:118651
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Depressed nasal ridge, Deviation of finger,... ORPHA:2831
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, 11 pairs of ribs, Thoracic platyspondyly,... OMIM:108720
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Microcephaly, Hypoplastic ili... OMIM:210720
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Narro... ORPHA:85166
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Smith-Mccort Dysplasia 1
Genu varum, Delayed femoral head ossification, Disproportionate short-trunk short stature, Microc... OMIM:607326
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micromelia, Fro... ORPHA:440354
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Bell-shaped thorax, Short long b... OMIM:611702
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Short distal phalanx of finger, Depressed nasal bridge, Patchy distortion of ... OMIM:155050
Robinow Syndrome, Autosomal Dominant 2
Clinodactyly, Long philtrum, Micrognathia, Thin upper lip vermilion, Macrocephaly, Short nose, Tr... OMIM:616331
Autosomal Dominant Omodysplasia
Short palm, Long philtrum, Rhizomelia, Cryptorchidism, Elbow dislocation, Micrognathia, Hypoplasi... ORPHA:93328
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Narrow nose, Micrognathia, Micromelia, Prominent n... OMIM:269870
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... ORPHA:85188
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Seve... OMIM:187600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Pes planus, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High... OMIM:612350
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Sinus tachycardia, Irregular cap... OMIM:616716
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Protuberant abdomen, Hypoplasia of the radius, Hypoplastic scapul... OMIM:200600
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, F... ORPHA:684
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Long philtrum, Fibular hypoplasia, Mesomelic arm shortening, Ph... OMIM:171480
X-Linked Intellectual Disability, Cabezas Type
Open bite, Sandal gap, Clinodactyly of the 5th finger, Pes cavus, Microcephaly, Scoliosis, Small ... ORPHA:85293
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Abnormal rib cage morphology, Metaphyseal widening, Hip dislocation,... OMIM:252500
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Small for gestati... OMIM:227270
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Micrognathia, Brachycephaly, Prominent metopic ridge, Broad phalanx, Broad metata... OMIM:275595
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, High palate, Abnormality of pelvic girdle bone morphology, Open bite, Clino... ORPHA:3079
Acrocephalopolydactyly
Brachydactyly, Hepatosplenomegaly, Depressed nasal ridge, Protuberant abdomen, Oxycephaly, Premat... ORPHA:221054
Three M Syndrome 2
Clinodactyly, Long philtrum, Severe short stature, Scapular winging, Prominent calcaneus, High pa... OMIM:612921
Osteoglophonic Dysplasia
Chordee, Long philtrum, Broad palm, Pseudoarthrosis, Cloverleaf skull, Mandibular prognathia, Sho... OMIM:166250
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Biparietal narrowing, Finger syndactyly, Intrauterine ... ORPHA:1005
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Long philtrum, Everted lower lip ver... ORPHA:357175
Mental Retardation Syndrome, Mietens-Weber Type
Severe postnatal growth retardation, Dislocated radial head, Pes planus, Narrow nose, Absent prox... OMIM:249600
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... OMIM:127300
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Long philtrum, Everted lower lip ver... OMIM:615162
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Microcephaly, Hallux valgus, Short toe, Mandibular pro... ORPHA:1327
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Progressive microcephaly, Small for gestational age, Rhizomelia, Sandal gap, Shor... OMIM:607143
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Narrow chest, Lower limb asymmetry, ... ORPHA:763
Pycnodysostosis
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, Na... OMIM:265800
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Prominent superficial veins, Upper l... ORPHA:75508
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Convex nasal ridge, Broad hallux, Micrognathia, Microcephaly, Increas... OMIM:613684
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... OMIM:300510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Vertebral hypoplasia, Narrow vertebral interpedicular distance, Micromelia, Dispropor... OMIM:602557
Tetraploidy
Biparietal narrowing, Short philtrum, Intrauterine growth retardation, Radial club hand, Convex n... ORPHA:3305
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Congenital hip dislocation, Hypoplas... ORPHA:93333
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, High, narrow palate, Short middle phalanx of the 2nd fing... OMIM:119600
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Open bite, Craniofacial hyperostos... ORPHA:61
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Hypoplasia of the odontoid process, Pec... OMIM:184255
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Abnormal hip bone morphology, Biparietal narrowing, Narrow mouth, Fin... ORPHA:1323
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Proximal hume... OMIM:602613
Seckel Syndrome 1
Pancytopenia, Talipes, Pes planus, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, ... OMIM:210600
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Intrauterine growth retardation, Fibular hypoplasia, Radial... ORPHA:1972
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Dolichocephaly, Ovoid vertebral... ORPHA:40
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short st... ORPHA:2019
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short tibia, Short ... OMIM:612447
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Abnormal clavic... ORPHA:1453
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Dolichocephaly, Short femoral neck, Dislocated ... OMIM:618395
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Short stature, S... ORPHA:1858
Dyggve-Melchior-Clausen Syndrome, X-Linked
Disproportionate short-trunk short stature, Distal ulnar hypoplasia, Scoliosis, Hallux valgus, Ma... OMIM:304950
Femoral-Facial Syndrome
Long philtrum, Micrognathia, Abnormal rib morphology, Scoliosis, Thin upper lip vermilion, Hip dy... ORPHA:1988
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Micromelia, Narrow chest, Cleft palate, Brachydactyly, Bowing of the lo... OMIM:614091
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, High palate, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypopla... OMIM:602471
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Dysphagia, Wide nasal... OMIM:601559
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Decreased skull ossification, Micrognathia, Microcephaly, Cleft palat... OMIM:616897
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Feeding difficulties in infancy, Kyphosis, Intrauterine growth retardation, Enamel... OMIM:234250
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Short thorax, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:617102
Multiple Metaphyseal Dysplasia
Brachydactyly, Depressed nasal ridge, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Microme... ORPHA:93430
17Q21.31 Microduplication Syndrome
Toe syndactyly, High palate, Short philtrum, Delayed puberty, Sandal gap, Clinodactyly of the 5th... ORPHA:217340
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Talipes, Severe short stature, Hypoplasia of the radius, Elbow dislocatio... ORPHA:2249
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Long philtrum, Metaphyseal spurs, T... ORPHA:96334
Multiple Synostoses Syndrome 1
Carpal synostosis, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Asymmetry of the mo... OMIM:186500
Achondrogenesis Type 1A
Short palm, Abnormal enchondral ossification, Long philtrum, Severe short stature, Short thorax, ... ORPHA:93299
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Short ribs, Delayed pubic bone ossification, Enlarged epiph... OMIM:613330
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Long philtrum, Fibular hypoplasia, Pes planus, 11... OMIM:114290
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate shor... OMIM:618363
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Muenke Syndrome
Brachydactyly, Clinodactyly, Dental malocclusion, Plagiocephaly, Thimble-shaped middle phalanges ... OMIM:602849
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Microcephaly, Short stature, Postaxial hand polydactyly, Short humerus, Aplasia/Hypop... ORPHA:2491
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Disproportionate short stat... OMIM:260660
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemi... ORPHA:958
Acromicric Dysplasia
Brachydactyly, Narrow mouth, Ovoid vertebral bodies, Short palm, Bulbous nose, Abnormality of epi... ORPHA:969
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Severe short stature, Broad femora... ORPHA:239
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... ORPHA:93323
Image Syndrome
Micromelia, Depressed nasal bridge, Hypogonadism, Metaphyseal dysplasia ORPHA:85173
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Severe short stature, Cone-shaped epiphysis, Microcephaly, Scoliosis, ... ORPHA:2511
Mental Retardation, X-Linked 91
Clinodactyly, High palate, Short 5th finger, Obesity, Short nose, Cubitus valgus, Small hand, Mac... OMIM:300577
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Abnormal form of the v... ORPHA:2370
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Depressed... OMIM:277150
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Neonatal short-limb short stature, S... OMIM:100800
Lig4 Syndrome
Pancytopenia, Biparietal narrowing, Leukocytosis, Clinodactyly of the 5th finger, Cutaneous photo... ORPHA:99812
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Se... OMIM:251450
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Biparietal narrowing, High palate, Intrauterine growth retardation, Pes pla... ORPHA:251071
Mental Retardation, Buenos Aires Type
Intrahepatic biliary atresia, Feeding difficulties in infancy, High palate, Cuboid-shaped thoraco... OMIM:249630
Cenani-Lenz Syndrome
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Scoliosis, Short nose, Hip... ORPHA:3258
Van Den Ende-Gupta Syndrome
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Distal ulnar hypoplasia, Hig... OMIM:600920
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Fibrochondrogenesis
Brachydactyly, Plagiocephaly, Narrow mouth, Abnormal form of the vertebral bodies, Short ribs, Na... ORPHA:2021
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachydactyly, Biparietal narrowing, Symphalangism affecting the phalanges of the hand, Intrauter... ORPHA:1292
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Irregular menstruation, Hypoplastic vertebral bodies, Broad palm, Narrow vertebr... OMIM:101800
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, Clinodactyly, High palate, Short philtrum, Single transverse palmar crease, Fibular... OMIM:201170
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Brachydactyly, Type A1
Proportionate shortening of all digits, Absent distal interphalangeal creases, Clinodactyly of th... OMIM:112500
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Kyphosis, Underdeveloped nasal alae, Open bite, Crypt... ORPHA:2471
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Abdominal distention, Scoli... OMIM:619345
Cranioectodermal Dysplasia 1
Clinodactyly, Hepatic failure, Fibular hypoplasia, Radial deviation of finger, Everted lower lip ... OMIM:218330
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Convex nasal ridge, Pla... OMIM:156510
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Long philtrum, Arrhythmia, Radial club hand, Aplasia/Hypoplasia of the th... ORPHA:2878
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Wide nose, Talipes, Severe short stature, Clinodactyly of the... ORPHA:2557
Eiken Syndrome
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... ORPHA:79106
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Osteopo... OMIM:184260
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Tapered finger, Microcephaly, Short finger, Acrocyanosis OMIM:302000
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Long philtrum, Underdeveloped nasal alae, Narrow nose, Micrognathia, Small hand, Broad... OMIM:257850
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Clinodactyly, 2-5 finger cutaneous syndactyly, Symphalangism affecting the phalang... ORPHA:3246
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology ORPHA:3314
Mulibrey Nanism
Hypoplastic frontal sinuses, Single transverse palmar crease, Dolichocephaly, Intrauterine growth... OMIM:253250
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Protub... OMIM:151210
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Sandal gap, Micrognathia, High, narrow palate, ... ORPHA:2980
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, C... ORPHA:94068
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Orofaciodigital Syndrome Type 6
Broad nasal tip, Foot polydactyly, Mesoaxial polydactyly, Micrognathia, Midline notch of upper al... ORPHA:2754
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Microcephaly-Micromelia Syndrome
Narrow mouth, Wide nose, Craniosynostosis, Intrauterine growth retardation, Absent radius, Oligod... OMIM:251230
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Abnormality of long bone morphology, Growth delay, ... OMIM:259270
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Narrow chest, Exc... ORPHA:1860
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Fibular hypoplasia, Poorly ossifie... ORPHA:140
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Dilated cardiomyopathy, High palate, Solitary median maxillary central inci... ORPHA:261250
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign, Tremor OMIM:300660
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Amenorrhea, Abnorm... ORPHA:3130
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Orofaciodigital Syndrome Viii
Broad nasal tip, High palate, Polydactyly, Short stature, Short tibia, Bifid nasal tip, Cleft pal... OMIM:300484
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Long thorax, Tooth a... ORPHA:1277
Brachydactyly, Type A1, C
Brachydactyly, Bilateral talipes equinovarus, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Pde4D Haploinsufficiency Syndrome
Long philtrum, Pes planus, Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia,... ORPHA:439822
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Broad nasal tip, Fibular hypoplasia, Dislocated radial head, ... ORPHA:166016
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, Microgn... ORPHA:251028
Gombo Syndrome
Brachydactyly, Clinodactyly, Microcephaly, Delayed puberty, Radial deviation of finger OMIM:233270
Atelosteogenesis, Type Iii
Prominent occiput, Cervical kyphosis, Sandal gap, Micrognathia, Scoliosis, Cervical segmentation ... OMIM:108721
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Short stature, Primary amenorrhea OMIM:617690
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Myotonia, Percussion myotonia, Dysphagia, Skeletal m... OMIM:255700
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Achondroplasia
Hypoxemia, Hip joint hypermobility, Disproportionate short stature, Narrow greater sciatic notch,... ORPHA:15
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prominent occiput, Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Microcephaly, Dispropor... OMIM:210710
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Protuberant abdomen, Metaphyseal cupping,... OMIM:614524
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Micrognathia, Microcephaly, Abnormality of the humerus, Cleft palate, ... ORPHA:3098
Kyphomelic Dysplasia
Micrognathia, Micromelia, Disproportionate short stature, Cleft palate, Cleft upper lip, Lateral ... OMIM:211350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, High palate, Hypoplasia of the ulna, Osteopenia, Long philtrum, Abnorm... OMIM:615398
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
Spinal Muscular Atrophy, Jokela Type
Hammertoe, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking... OMIM:615048
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Short stature, Hallux valgus, Kyphoscoliosis, Dental malocclusion, Prominent nose OMIM:615541
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Broad palm, Hamartoma of tongue, Short toe, Median cleft lip and palate, Macroce... OMIM:269860
Melnick-Needles Syndrome
Pes planus, Micrognathia, Anterior concavity of thoracic vertebrae, Narrow chest, Genu valgum, Cl... OMIM:309350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... OMIM:609945
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Pes planus, Microdontia, Micrognathia, Pear-shaped nose, Scoliosis, Thin upper lip... OMIM:190350
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Hypodontia, Platyspondyly, Flare... OMIM:607095
Lathosterolosis
Hepatic failure, Talipes, Long philtrum, Micrognathia, Microcephaly, Intrahepatic cholestasis, An... ORPHA:46059
Spondylometaphyseal Dysplasia, Schmidt Type
Poor suck, Abnormal ilium morphology, Severe short stature, Disproportionate short-trunk short st... ORPHA:93316
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Medial widening of clavicles, Flared humeral m... OMIM:183849
Tetrasomy X
Brachydactyly, Abnormality of the dentition, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:9
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips, Microcephaly, Clinodac... OMIM:211369
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Long philtrum, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, M... ORPHA:228396
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Growth... ORPHA:52056
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Narrow palate, Finger syndactyly, Delayed eruption of teeth, Short metacarpal, Sanda... OMIM:264475
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Pes planus... OMIM:184250
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Frontal bossing, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Cornelia De Lange Syndrome 2
Clinodactyly, Micrognathia, Microcephaly, Small hand, Thin upper lip vermilion, Brachydactyly, Hi... OMIM:300590
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Prominent deltoid tuberosities, Short femoral neck, Rhizomelia, Short ri... OMIM:610319
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm, Pancreatic islet-cell hyperp... OMIM:215140
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Biparietal narrowing, Non-midline cleft lip, Abnormality of the philtrum, Short st... ORPHA:1770
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Gastroparesis, Abdominal dist... ORPHA:1876
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... ORPHA:1801
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... OMIM:156230
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Monosomy 18Q
Slender build, Pes planus, Left-to-right shunt, Tapered finger, Microcephaly, Mandibular prognath... ORPHA:1600
Maxillonasal Dysplasia
Vertebral clefting, Depressed nasal ridge, Open bite, Aplasia/Hypoplasia of the distal phalanges ... ORPHA:1248
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Non-Distal Monosomy 10Q
Brachydactyly, Biparietal narrowing, Clinodactyly of the 5th finger, Overlapping fingers, Wide na... ORPHA:1581
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Ovoid vertebral bodies, Hypoplasia of the femoral head, Short femoral ... OMIM:617396
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Cone-shaped epiphyses of the phalanges of... OMIM:250460
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Dysostosis, Stanescu Type
Macroglossia, Micromelia, Microcephaly, Scoliosis, Hypoplasia of the zygomatic bone, Massively th... ORPHA:1798
Toluene Embryopathy
Biparietal narrowing, Tapered finger, Micrognathia, Microcephaly, Short stature, Smooth philtrum,... ORPHA:1920
Pallister W Syndrome
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Pes planus, Agenesis of centr... OMIM:311450
Momo Syndrome
Long foot, Long philtrum, Abnormal bone ossification, Macrocephaly, Wide nasal base, Large hands,... ORPHA:2563
Cono-Spondylar Dysplasia
Brachydactyly, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, F... ORPHA:420794
Cranioectodermal Dysplasia
Prominent occiput, Clinodactyly of the 5th finger, Everted lower lip vermilion, Osteoporosis, Mic... ORPHA:1515
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Codas Syndrome
Pes valgus, Coronal cleft vertebrae, Delayed ossification of carpal bones, Squared iliac bones, S... OMIM:600373
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal thumb morphology, Abnormality of the ulna, Ap... ORPHA:2639
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Intermediate Osteopetrosis
Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susceptibility to fractur... ORPHA:210110
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Arrhythmia, Short finger, Long thumb OMIM:112430
Roifman Syndrome
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Microcephaly, Short toe... ORPHA:353298
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology, Micrognathia, Short stature, Thin upper lip vermilion,... ORPHA:2015
Opsismodysplasia
Long philtrum, Hypoplastic vertebral bodies, Squared iliac bones, Scoliosis, Macrocephaly, Narrow... OMIM:258480
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Short distal phalanx of finger, Short stature, Broad thumb, Camptodactyly o... ORPHA:1471
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Arrhyth... ORPHA:1350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Primary amenorrhea, Talipes, Constipation, Abnormality of the hand, High, narrow pa... ORPHA:95699
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Short femo... OMIM:608154
Mosaic Trisomy 9
Prominent occiput, Micrognathia, Micromelia, Microcephaly, Scoliosis, Hemivertebrae, Cleft palate... ORPHA:99776
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Advanced tarsal ossification, Hypoplastic vertebral bo... ORPHA:3144
Blepharophimosis-Impaired Intellectual Development Syndrome
Underdeveloped nasal alae, Pes planus, Clinodactyly of the 5th finger, Tapered finger, Widely spa... OMIM:619293
Osteolysis Syndrome, Recessive
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Abnormal foot morphology... OMIM:259610
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enlargement o... OMIM:277440
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Short ribs, Mic... OMIM:600972
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enlargement o... OMIM:264700
Brachydactyly, Type A4
Talipes calcaneovalgus, Type A brachydactyly, Congenital talipes calcaneovalgus, Short middle pha... OMIM:112800
Brachyolmia Type 1, Hobaek Type
Osteopenia, Kyphosis, Short femoral neck, Disproportionate short-trunk short stature, Sclerotic f... OMIM:271530
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Mesomelic ... OMIM:609616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Everted lower lip ve... OMIM:617877
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Pes planus, Widely spaced teeth, Na... OMIM:143095
Alagille Syndrome
Long nose, Cholestasis, Clinodactyly of the 5th finger, Micrognathia, Abnormal rib morphology, Re... ORPHA:52
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Frontal bossing, Abnormality of pelvic girdle bone morphology, Abnormal rib mo... ORPHA:1506
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, Long philtrum, Failure to thrive in infancy, Scoliosis, Hypoplasia of th... ORPHA:1340
Rothmund-Thomson Syndrome
Infertility, Abnormal trabecular bone morphology, Microdontia, Short thumb, Telangiectasia of the... ORPHA:2909
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Pierpont Syndrome
Broad nasal tip, Cryptorchidism, Broad palm, Everted lower lip vermilion, Widely spaced teeth, Sc... OMIM:602342
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Kyphosis, Lateral femoral b... OMIM:239000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... ORPHA:166272
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Abn... OMIM:605274
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Narrow mouth, Hypoplasia of the ulna, Craniosynostosis, Long philtru... ORPHA:96097
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Roifman Syndrome
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Narrow nose, Microcepha... OMIM:616651
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Generalized osteoporosis, Bifid uvula, Prematurely aged appearance, Progeroid ... ORPHA:2959
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, EMG: myotonic runs, Handgrip myotonia... OMIM:160800
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Coronal cleft vertebrae, Abnormal ilium morphology, Short greater sciatic notch, Seve... ORPHA:93314
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Broad nasal tip, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single tra... ORPHA:370010
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Anosmia, Epiphyseal stippling, Short distal phalanx of finge... OMIM:302950
Hall-Riggs Syndrome
Brachydactyly, Delayed eruption of teeth, Abnormality of epiphysis morphology, Wide nasal bridge,... ORPHA:2107
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
3Q29 Microduplication Syndrome
Biparietal narrowing, Toe syndactyly, High palate, Craniosynostosis, Abnormality of the dentition... ORPHA:251038
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Abnormal foot morphology, Disp... OMIM:200610
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Short 1st metacarpal, Hypoplasi... OMIM:147750
Isotretinoin Syndrome
Biparietal narrowing, Micrognathia, Depressed nasal bridge, Spina bifida occulta, Cleft palate ORPHA:2305
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Depressed nasal ridge, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly OMIM:601016
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Lateral clavicle hook, Polydactyly, Short stature, Narrow chest OMIM:617405
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Autosomal Recessive Omodysplasia
Rhizomelia, Micrognathia, Micromelia, Abnormality of the radius, Depressed nasal bridge, Abnormal... ORPHA:93329
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... ORPHA:93352
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Bidirectio... OMIM:170390
Peho Syndrome
Biparietal narrowing, Abnormal palate morphology, Open mouth, Tapered finger, Feeding difficultie... ORPHA:2836
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Large for gestational age, Feeding difficulties... ORPHA:226313
Larsen-Like Syndrome
Absent nasal bridge, Dental malocclusion, Bipartite calcaneus, Clinodactyly of the 5th finger, Ky... OMIM:608545
Ruvalcaba Syndrome
Short palm, Underdeveloped nasal alae, Short metacarpal, Narrow nose, Short phalanx of finger, Mi... OMIM:180870
Mcdonough Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, Micrognathia, Pulmonic stenosis, P... OMIM:248950
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Broad nasal tip, Achilles tendon contracture, Cutis marmor... OMIM:619719
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, Percussion myotonia, Dy... ORPHA:34516
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... OMIM:132400
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Kyphosis, Externally rotated hips, Hypoplastic scapulae, Macroglossia, Micromelia, Sho... ORPHA:79107
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Aplastic clavicle, Hypoplasti... ORPHA:1512
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Perrault Syndrome 3
Hypoplasia of the uterus, Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Hemivertebrae, Hip dislocation, High ... OMIM:200980
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Convex nasal ridge, Oral cleft, Microcephaly, Lower limb undergrowth, Forearm u... OMIM:218650
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia,... OMIM:190351
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Small for gestational age, Abnormal thorax morphology, Polydactyly,... ORPHA:294975
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Narrow chest... OMIM:611263
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, High palate, Abnormal form of the vertebral bodies, Bulbous nose, Sandal gap, Obes... ORPHA:2180
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Feeding difficulties in infancy, Short philtrum, Intrauterine growth retardation, ... OMIM:614257
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachy... OMIM:611717
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Pedal edema, Arthralgia of the hip, Genu valgum, Hip d... ORPHA:166011
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Long philtrum, Protuberant abdomen, Narrow chest, Widely spaced teeth, Wide nasal ... OMIM:619479
Cohen Syndrome
Pes planus, Tapered finger, Micrognathia, High, narrow palate, Microcephaly, Genu valgum, Thoraci... OMIM:216550
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Decreased body weight, High palate, Intrauterine... OMIM:600325
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Long foot, Increased density of long bone diaphyses, Scoliosis, Scapular ... OMIM:305620
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... ORPHA:3237
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Coxa valga, Osteopenia, ... ORPHA:356961
Smith-Lemli-Opitz Syndrome
Long philtrum, Micrognathia, Abnormal rib morphology, Microcephaly, Scoliosis, Cleft palate, Hip ... ORPHA:818
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Hypoplastic vertebral bodies, Short... ORPHA:2347
Diastrophic Dysplasia
Micrognathia, Abnormal rib morphology, Micromelia, Scoliosis, Macrocephaly, Hip dysplasia, Cleft ... ORPHA:628
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Bone marrow hypocellularity, Hypoplasia of the radius, Radi... OMIM:614900
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Fanconi Anemia, Complementation Group S
Clinodactyly, Narrow palate, Thick upper lip vermilion, Microcephaly, Anemia, Failure to thrive, ... OMIM:617883
Summitt Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Depressed nasal ri... ORPHA:3210
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Short palm, Bulbous nose, Long philtrum, Short metacarpal, ... OMIM:102370
Harrod Syndrome
Narrow mouth, Long nose, High palate, Abnormality of pelvic girdle bone morphology, Kyphosis, Int... ORPHA:2115
Opsismodysplasia
Hypoplastic vertebral bodies, Severe short stature, Tapered finger, Squared iliac bones, Narrow c... ORPHA:2746
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Constipation, Gastrointestinal dysmotility, Ragged... OMIM:603041
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad nasal tip, Cone-shaped capital femoral epiphysis, Broad palm, Metaphyseal widening, Brachyd... OMIM:300232
Cerebellofaciodental Syndrome
Tapered finger, Microcephaly, Short stature, Scoliosis, Slender long bone, Dental malocclusion, T... OMIM:616202
Seckel Syndrome 7
Clinodactyly, Primary amenorrhea, Intrauterine growth retardation, Central hypothyroidism, Severe... OMIM:614851
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Anauxetic Dysplasia 3
Severe short stature, Squared iliac bones, Retrognathia, Narrow chest, Genu valgum, Brachydactyly... OMIM:618853
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Talipes, Micromelia, Anemia, Narrow chest, Diarrhea, Abnormality of ep... ORPHA:1842
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Micrognathia, High, narrow p... OMIM:234100
Dystonia, Juvenile-Onset
Achalasia, Cleft upper lip, Small for gestational age, Externally rotated hips, Hypoplastic scapu... OMIM:607371
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Nicolaides-Baraitser Syndrome
Long philtrum, Sandal gap, Everted lower lip vermilion, Widely spaced teeth, Microcephaly, Scolio... OMIM:601358
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Abnormal thorax morphology, Anemia, Broad clavicles, Thrombocytopenia,... ORPHA:508542
Martsolf Syndrome 1
Broad nasal tip, Cardiac arrest, Broad fingertip, Micrognathia, Microcephaly, Short toe, Tooth ma... OMIM:212720
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Abnormality of the dentition OMIM:300604
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Dolichocephaly, Wide nasal bridge, Relative macrocephaly, Mandibular prognathia, M... OMIM:617169
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, High palate, Shortening of all distal phalanges of the fingers, Anteverted nares, 2... OMIM:616809
Cri-Du-Chat Syndrome
Bifid uvula, Pes planus, Microcephaly, Scoliosis, High palate, Single transverse palmar crease, S... OMIM:123450
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perfora... OMIM:277320
Fetal Alcohol Syndrome
Biparietal narrowing, Intrauterine growth retardation, Non-midline cleft lip, Microdontia, Microg... ORPHA:1915
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Short stature, Macroorchidism... ORPHA:1193
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Premature ovarian ... ORPHA:2928
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Intrauterine growth retardation, Small for gestational age, Wide nasal bridge, Mic... OMIM:612626
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pectus excavatum OMIM:607278
Short Syndrome
Clinodactyly, Delayed eruption of teeth, Underdeveloped nasal alae, Small for gestational age, In... OMIM:269880
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Short philtrum, Primary amenorrhea, Abnormality of the ovary, Increased serum test... ORPHA:247768
Hamamy Syndrome
Microcytic anemia, Clinodactyly, Long philtrum, Tapered finger, Micrognathia, Dysphagia, Mitral r... OMIM:611174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Narrow mouth, Coronal craniosynostosis, Short metacarpal, Wide nasal bridge, Micro... OMIM:614078
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Decreased body weight, Delayed ossification of carpal bones, Kyphosis, Small for g... OMIM:618392
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Turnpenny-Fry Syndrome
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Pes cavus, Microcephaly, Small ha... OMIM:618371
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Foot polydactyly, Fibular hypoplasia, Bile duct proliferation, Hypoplastic iliac... OMIM:208500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Short palm, Tapered finger, Thick lower lip vermilion, Maxillar... OMIM:300431
Keipert Syndrome
Brachydactyly, Clinodactyly, Thick upper lip vermilion, Broad hallux, Exaggerated cupid's bow, Mi... OMIM:301026
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... ORPHA:99642
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Micromelia, Hypertension, Narrow chest, Severe platyspondyly, Short nose, Sm... OMIM:613320
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... OMIM:617927
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... OMIM:601957
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Short stature, C... ORPHA:2031
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Toe syndactyly, Broad nasal tip, High palate, Hand polydactyly, Microcep... OMIM:258865
Joubert Syndrome
Biparietal narrowing, Feeding difficulties in infancy, Foot polydactyly, Abnormal form of the ver... ORPHA:475
W Syndrome
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Pes planus, El... ORPHA:2804
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Cryptorchidism, Cone-shaped epi... OMIM:614613
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Pes planus, Micromelia, Scoliosis, Macrocephaly, Scapular... OMIM:618870
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... OMIM:609325
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Mas... OMIM:122900
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/Hypoplasia of the ribs, Cleft palate, ... ORPHA:2839
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Square... OMIM:618961
Craniofrontonasal Dysplasia
Sandal gap, Clinodactyly of the 5th finger, Microcephaly, Scoliosis, Midline defect of the nose, ... ORPHA:1520
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology ORPHA:1078
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Wide nasal bridge, Cortically ... OMIM:269500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Azoospermia, Micrognathia, Short stature, Bicornuate uterus, Hypoplasia of the u... OMIM:601076
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Wide nasal bridge,... ORPHA:1278
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis, Brachycephaly, Midface retrusion ORPHA:35099
Macrocephaly/Autism Syndrome
Biparietal narrowing, Long philtrum, Obesity, Splenomegaly, Hepatomegaly, Frontal bossing, Depres... OMIM:605309
Van Maldergem Syndrome 2
Clinodactyly, Tented upper lip vermilion, Micrognathia, Scoliosis, Narrow chest, High palate, Abn... OMIM:615546
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Micrognathia, Hamartoma of... OMIM:617925
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, ... ORPHA:666
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Short palm, Tapered finger, Thick lower lip vermilion, Maxillar... OMIM:300602
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Talipes, Clinodactyly of the 5th finger, Abnormality of fibula morpho... ORPHA:1836
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Pes planus, Micrognathia, Microcephaly, Scoliosis, Metaphyseal widening... OMIM:182212
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... OMIM:258860
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Wide nasal bridge, Hypoplasia of the... ORPHA:261295
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Cleft upper lip, Conical tooth, Abnormal foot morphology, Supernumerary v... OMIM:263750
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Rachitic rosary, Osteomalacia, Rickets, Enlargement of the wrists, Enamel hypoplasia,... ORPHA:289157
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Foot polydactyly, Feeding difficulties, Hand polydactyly, Abnormal vertebra... ORPHA:220493
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Feeding difficulties, Skeletal muscle hypertrophy, Percussion myotonia, Han... OMIM:168300
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Osteopenia, Intrauterine gro... OMIM:211920
Potocki-Lupski Syndrome
Feeding difficulties in infancy, Trigonocephaly, High palate, Small for gestational age, Gastroes... OMIM:610883
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Pes planus, Short me... ORPHA:93351
Omodysplasia 1
Long philtrum, Fibular hypoplasia, Cryptorchidism, Increased fibular diameter, Micrognathia, Limi... OMIM:258315
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Van Maldergem Syndrome 1
Clinodactyly, Tented upper lip vermilion, Micrognathia, Scoliosis, Narrow chest, High palate, Abn... OMIM:601390
Satoyoshi Syndrome
Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Sho... OMIM:600705
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormal p... ORPHA:2097
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Wormian bones, Osteoporosis, Microcephaly, Short distal phalanx of finger, Frontal... ORPHA:2787
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly, Broad columella, Underdeveloped nasal alae, Micrognathia, Short stature, Malar fla... ORPHA:436245
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Ulna And Fibula, Hypoplasia Of
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hypoplasia of the u... OMIM:191400
Trochlea Of The Humerus, Aplasia Of