Opsismodysplasia

Preferred Label : Opsismodysplasia;

Symbol : OPSMD;

CISMeF acronym : OPSMD;

Type : Phenotype, molecular basis known;

Description : Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inositol polyphosphate phosphatase-like 1 gene (INPPL1, 600829.0001);

Prefixed ID : #258480;

Details

Origin ID

258480;

UMLS CUI

C0432219;

Automatic exact mappings (from CISMeF team)
- INPPL1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Opsismodysplasia [ICD-11 More detail]
- Opsismodysplasia [MeSH concept]
- Opsismodysplasia [ORDO Disease]
- Opsismodysplasia (disorder) [SNOMED CT concept]
- opsismodysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Inositol polyphosphate phosphatase-like 1 [OMIM gene]
HPO term(s)
- Anterior and posterior rib flaring [HPO term]
- Anterior rib cupping [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism [HPO term]
- Edema [HPO term]
- Flat acetabular roof [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Horizontal acetabular roof [HPO term]
- Hypertelorism [HPO term]
- Hypophosphatemia [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic bone [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Hypotonia [HPO term]
- Large fontanelles [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal cupping [HPO term]
- Narrow chest [HPO term]
- Polyhydramnios [HPO term]
- Posterior rib cupping [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal phosphate wasting [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Scoliosis [HPO term]
- Severe platyspondyly [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Squared iliac bones [HPO term]
ORDO concept(s)
- Opsismodysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Opsismodysplasia [ORDO Disease]
- Opsismodysplasia [MeSH concept]
- Opsismodysplasia [ICD-11 More detail]
- Opsismodysplasia (disorder) [SNOMED CT concept]
- opsismodysplasia [MeSH Supplementary Concept]

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