Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b

Preferred Label : Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b;

Symbol : CPSFS1B;

CISMeF acronym : CPSFS1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Contractures, pterygia, and variable skeletal fusions syndrome 1b; CPSKF1B;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, 160720.0018);

Prefixed ID : #618469;

Details

Origin ID

618469;

UMLS CUI

C5193114;

Genes related to phenotype
- Myosin, heavy chain 3, skeletal muscle, embryonic [OMIM gene]
HPO term(s)
- Absent phalangeal crease [HPO term]
- Antecubital pterygium [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Flexion contracture [HPO term]
- Fused cervical vertebrae [HPO term]
- Fused thoracic vertebrae [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Talipes equinovarus [HPO term]
- Tarsal synostosis [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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