Multiple pterygium syndrome, X-linked

Preferred Label : Multiple pterygium syndrome, X-linked;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pterygium syndrome, multiple, X-linked;

Description : Carnevale et al. (1973) observed a family with 7 cases of pterygium syndrome in 3 generations and suggested X-linked dominant inheritance because father-to-son transmission did not occur, and all 4 daughters but none of 4 sons of an affected male were affected. Against X-linked dominant inheritance was the fact that females were not more mildly affected than the 1 affected male in the pedigree. Tolmie et al. (1987) described a prenatal lethal multiple pterygium syndrome occurring in 2 male sibs and a first cousin once removed connected through presumptively carrier females. Meyer-Cohen et al. (1999) described 4 male fetuses in 1 sibship with healthy nonconsanguineous parents and raised the question of an X-linked recessive subtype of lethal pterygium syndrome. In a review of the literature, the family reported by Tolmie et al. (1987) was the only one that strongly supported X-linked inheritance. *FIELD* RF 1. Carnevale, A.; Hernandez, A. L.; De los Cobos, L.: Sindrome de pterygium familiar con probable transmission dominante ligada al cromosoma X. Rev. Invest. Clin. 25: 237-244, 1973. 2. Meyer-Cohen, J.; Dillon, A.; Pai, G. S.; Conradi, S.: Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype? (Letter) Am. J. Med. Genet. 82: 97-99, 1999. 3. Tolmie, J. L.; Patrick, A.; Yates, J. R. W.: A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance. Am. J. Med. Genet. 27: 913-919, 1987. *FIELD* CS Growth: Intrauterine growth retardation Neck: Cystic hygroma; Jugular lymphatic obstruction sequence Skin: Hydrops; Multiple pterygia Metabolic: Malignant hyperthermia Neuro: Early severe fetal akinesia sequence Muscle: Generalized amyoplasia Limbs: Flexion contractures;

Inheritance : X-linked;

Prefixed ID : %312150;

Details

Origin ID

312150;

UMLS CUI

C1839440;

Automatic exact mappings (from CISMeF team)
- Multiple pterygium syndrome, X-linked [ICD-11 More detail]
Currated CISMeF NLP mapping
- X-linked lethal multiple pterygium syndrome [ORDO Disease]
- X-linked lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
- multiple pterygium syndrome, X-Linked [MeSH concept]
- multiple pterygium syndrome, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- multiple pterygium syndrome [DO Concept]
HPO term(s)
- Abnormal cervical curvature [HPO term]
- Abnormal facial shape [HPO term]
- Amyoplasia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cystic hygroma [HPO term]
- Depressed nasal ridge [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic heart [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Low-set ears [HPO term]
- Malignant hyperthermia [HPO term]
- Microbrachydactyly [HPO term]
- Micrognathia [HPO term]
- Multiple pterygia [HPO term]
- Polyhydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short finger [HPO term]
- Thin ribs [HPO term]
- Vertebral fusion [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked lethal multiple pterygium syndrome [ORDO Disease]
Related ORDO disease(s)
- Lethal multiple pterygium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked lethal multiple pterygium syndrome [ORDO Disease]
- multiple pterygium syndrome, X-Linked [MeSH Supplementary Concept]
- multiple pterygium syndrome, X-Linked [MeSH concept]

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