Uruguay faciocardiomusculoskeletal syndrome

Preferred Label : Uruguay faciocardiomusculoskeletal syndrome;

Symbol : FCMSU;

CISMeF acronym : FCMS; FCMSU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FCMS; Faciocardiomusculoskeletal syndrome, uruguay type;

Description : Quadrelli et al. (2000) reported a family from Uruguay in which 6 males in 4 sibships in 3 generations, connected through females, had a syndrome of brachyturricephaly, 'pugilistic' facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three of the males were studied; 3 others had died from cardiac disease, consisting of ventricular hypertrophy. The mother of the propositus had milder signs of the syndrome, including an elongated face with prominent maxilla, everted lips, and a muffled voice. Her muscular development was prominent with little subcutaneous fat. *FIELD* RF 1. Quadrelli, R.; Vaglio, A.; Reyno, S.; Lemes, A.; Salazar, D.; Lachman, R. S.; Wilcox, W. R.: Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder. Am. J. Med. Genet. 95: 247-265, 2000. *FIELD* CS X-linked recessive;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, 300163.0018);

Laboratory abnormalities : Elevated creatine kinase;

Prefixed ID : #300280;

Details

Origin ID

300280;

UMLS CUI

C1846010;

Currated CISMeF NLP mapping
- uruguay faciocardiomusculoskeletal syndrome [MeSH concept]
- uruguay faciocardiomusculoskeletal syndrome [MeSH Supplementary Concept]
False automatic mappings
- FCM Regimen [NCIt concept]
- Ferric Carboxymaltose Solution [NCIt concept]
Genes related to phenotype
- Four-and-a-half lim domains 1 [OMIM gene]
HPO term(s)
- Abnormality of the voice [HPO term]
- Brachyturricephaly [HPO term]
- Broad nail [HPO term]
- Broad palm [HPO term]
- Camptodactyly of toe [HPO term]
- Cardiomyopathy [HPO term]
- Congenital hip dislocation [HPO term]
- Difficulty walking [HPO term]
- Dislocation of toes [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Everted lower lip vermilion [HPO term]
- Hallux valgus [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphosis [HPO term]
- Limited elbow movement [HPO term]
- Low-set ears [HPO term]
- Marked muscular hypertrophy [HPO term]
- Mitral regurgitation [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive pes cavus [HPO term]
- Prominent nose [HPO term]
- Prominent supraorbital ridges [HPO term]
- Pugilistic facies [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Synophrys [HPO term]
- Ventricular hypertrophy [HPO term]
- Wide nose [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- uruguay faciocardiomusculoskeletal syndrome [MeSH Supplementary Concept]
- uruguay faciocardiomusculoskeletal syndrome [MeSH concept]

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