Omodysplasia 1

Preferred Label : Omodysplasia 1;

Symbol : OMOD1;

CISMeF acronym : OMOD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Micromelic dysplasia, congenital, with dislocation of radius; Omodysplasia, generalized form; Omodysplasia, autosomal recessive;

Description : Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). - Genetic Heterogeneity of Omodysplasia In an autosomal dominant form of omodysplasia (OMOD2; 164745), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glypican 6 gene (GPC6, 604404.0001);

Prefixed ID : #258315;

Details

Origin ID

258315;

UMLS CUI

C1850318;

Automatic exact mappings (from CISMeF team)
- Micromelic dysplasia, congenital, with dislocation of radius [MeSH concept]
- micromelic dysplasia, congenital, with dislocation of radius [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal recessive omodysplasia [ICD-11 More detail]
- Autosomal recessive omodysplasia [ORDO Disease]
- Autosomal recessive omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia I (disorder) [Inactive SNOMED CT concept]
- Omodysplasia type 1 [MeSH concept]
- omodysplasia type 1 [MeSH Supplementary Concept]
DO Cross reference
- omodysplasia [DO Concept]
Genes related to phenotype
- Glypican 6 [OMIM gene]
HPO term(s)
- Anterolateral radial head dislocation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary pterygium [HPO term]
- Blepharophimosis [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism [HPO term]
- Epicanthus [HPO term]
- Fibular hypoplasia [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hemangioma [HPO term]
- Hypoplastic distal humeri [HPO term]
- Increased fibular diameter [HPO term]
- Limited elbow extension [HPO term]
- Limited elbow flexion [HPO term]
- Limited elbow flexion/extension [HPO term]
- Limited hip movement [HPO term]
- Limited knee extension [HPO term]
- Limited knee flexion [HPO term]
- Limited knee flexion/extension [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Narrow palpebral fissure [HPO term]
- Popliteal pterygium [HPO term]
- Pulmonary artery stenosis [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short tibia [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive omodysplasia [ORDO Disease]
- Omodysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive omodysplasia [ORDO Disease]
- Autosomal recessive omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia type 1 [MeSH concept]
- omodysplasia 1 [DO Concept]
- omodysplasia type 1 [MeSH Supplementary Concept]

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