Preferred Label : Humeroradial synostosis with craniofacial anomalies;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : See also humeroradial synostosis occurring as an autosomal dominant (143050) or autosomal
recessive (236400) malformation. Al-Hassnan and Teebi (2007) reported 2 sisters, born
of consanguineous Saudi parents, who had a syndromic form of humeroradial synostosis.
Both children had a distinctive facial appearance with a high, broad forehead, high
frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed
nasal bridge, and exotropia, as well as low-set, posteriorly rotated, and malformed
ears and short neck. Skeletal survey revealed bilateral humeroradial synostosis and
rhizomelic limb shortening. Both girls had a very large anterior fontanel, cranium
bifidum occultum, and plagiocephaly, but no craniosynostosis. At ages 2 and 3 years,
respectively, both had achieved developmental milestones with mild delay. After an
extensive review of the literature, Al-Hassnan and Teebi (2007) concluded that their
cases represent a previously unrecognized syndromic disorder. *FIELD* RF 1. Al-Hassnan,
Z. N.; Teebi, A. S.: Craniofacial anomalies, humero-radial synostosis, rhizomelic
limb shortness: previously unrecognized autosomal recessive syndrome. Am. J. Med.
Genet. 143A: 521-527, 2007. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 236410;
Origin ID : 236410;
UMLS CUI : C1968717;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
