Craniosynostosis with fibular aplasia

Preferred Label : Craniosynostosis with fibular aplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Lowry (1972) described brothers with this combination. The parents were related. Lowry (1993) provided a follow-up of one of the brothers at the age of 25 years. He was of average intelligence and had completed 2 years of college. He showed markedly hypoplastic calves. *FIELD* RF 1. Lowry, R. B.: Congenital absence of the fibula and craniosynostosis in sibs. J. Med. Genet. 9: 227-229, 1972. 2. Lowry, R. B.: Absent fibula and craniosynostosis: a 25 year follow up. (Letter) J. Med. Genet. 30: 445-446, 1993. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 218550;

Details

Origin ID

218550;

UMLS CUI

C1857492;

Currated CISMeF NLP mapping
- Craniosynostosis fibular aplasia syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis-fibular aplasia syndrome [ORDO Disease]
- craniosynostosis with fibular aplasia [MeSH concept]
- craniosynostosis with fibular aplasia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Fibular aplasia [HPO term]
- Single transverse palmar crease [HPO term]
ORDO concept(s)
- Craniosynostosis-fibular aplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis-fibular aplasia syndrome [ORDO Disease]
- craniosynostosis with fibular aplasia [MeSH Supplementary Concept]
- craniosynostosis with fibular aplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients