Acrocephalopolydactylous dysplasia

Preferred Label : Acrocephalopolydactylous dysplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Elejalde syndrome;

Description : Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).;

Inheritance : Autosomal recessive;

Prefixed ID : 200995;

Details

Origin ID

200995;

UMLS CUI

C3495588;

Currated CISMeF NLP mapping
- Acrocephalopolydactyly [ICD-11 More detail]
- Acrocephalopolydactyly [ORDO Disease]
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Elejalde syndrome [PASCAL descriptor]
- Elejalde syndrome [Disease (Nov.)]
- Neuroectodermal melanolysosomal disease [ICD-11 More detail]
- Neuroectodermal melanolysosomal disease [ORDO Disease]
- Neuroectodermal melanolysosomal disease (disorder) [SNOMED CT concept]
- acrocephalopolydactylous dysplasia [MeSH concept]
- acrocephalopolydactylous dysplasia [MeSH Supplementary Concept]
- elejalde disease [MeSH concept]
- elejalde disease [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Craniosynostosis [HPO term]
- Cystic renal dysplasia [HPO term]
- Enlarged kidney [HPO term]
- Epicanthus [HPO term]
- Extrapulmonary sequestrum [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the small intestine [HPO term]
- Hypoplastic colon [HPO term]
- Low-set ears [HPO term]
- Micromelia [HPO term]
- Omphalocele [HPO term]
- Oxycephaly [HPO term]
- Pancreatic fibrosis [HPO term]
- Polysplenia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Thickened skin [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Acrocephalopolydactyly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- acrocephalopolydactylous dysplasia [MeSH Supplementary Concept]
- acrocephalopolydactylous dysplasia [MeSH concept]

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