Dyggve-melchior-clausen syndrome, X-linked

Preferred Label : Dyggve-melchior-clausen syndrome, X-linked;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Yunis et al. (1980) described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The authors cited some reported families that are equally consistent with X-linked or autosomal recessive inheritance (223800). Spranger (1981) suggested that the disorder described by Yunis et al. (1980) was in fact X-linked SED tarda (313400). *FIELD* RF 1. Spranger, J.: X-linked Dyggve-Melchior-Clausen syndrome. (Letter) Clin. Genet. 19: 304 only, 1981. 2. Yunis, E.; Fontalvo, J.; Quintero, L.: X-linked Dyggve-Melchior-Clausen syndrome. Clin. Genet. 18: 284-290, 1980. *FIELD* CS X-linked recessive;

Inheritance : X-linked recessive;

Prefixed ID : 304950;

Details

Origin ID

304950;

UMLS CUI

C1844654;

Automatic exact mappings (from CISMeF team)
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Dyggve-Melchior-Clausen disease [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked Dyggve-Melchior-Clausen syndrome [MeSH concept]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Barrel-shaped chest [HPO term]
- Brachycephaly [HPO term]
- Carpal bone hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coxa vara [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Distal ulnar hypoplasia [HPO term]
- Genu valgum [HPO term]
- Hallux valgus [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pelvis [HPO term]
- Hypoplastic sacrum [HPO term]
- Irregular iliac crest [HPO term]
- Lumbar hyperlordosis [HPO term]
- Mandibular prognathia [HPO term]
- Platyspondyly [HPO term]
- Prominent sternum [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Small pelvis [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Thickened calvaria [HPO term]
- Thoracic kyphosis [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormality of skull size [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Dyggve-Melchior-Clausen disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked Dyggve-Melchior-Clausen syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients