Preferred Label : Ulnar/fibular ray defect and brachydactyly;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Morava et al. (2003) described a 3-generation family with variable expression of ulnar/fibular
hypoplasia, brachydactyly, ulnar ray defects, and short stature. The proband had ulnar
hypoplasia with missing fourth and fifth fingers, fibular hypoplasia on the right,
bilateral clubfeet, growth retardation, a hypoplastic midface, atrial septal defect,
and hemangiomas. She had normal mammary tissue and normal sweating. The mother had
short stature, midfacial hypoplasia, a hypoplastic ulna, and hypoplasia of the fourth
metacarpal (brachydactyly) on the right without other associated malformations. The
maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly
of the fourth and fifth toes. His sister had mild short stature and shortening of
the fourth metacarpal of the left hand. Two-point linkage analysis with microsatellite
markers spanning the ulnar-mammary syndrome (181450) locus at 12q24.1 did not confirm
linkage. Morava et al. (2003) suggested that the patients in this family may have
a previously undescribed syndrome. *FIELD* RF 1. Morava, E.; Czako, M.; Karteszi,
J.; Cser, B.; Weissbecker, K.; Mehes, K.: Ulnar/fibular ray defect and brachydactyly
in a family: a possible new autosomal dominant syndrome. Clin. Dysmorph. 12: 161-165,
2003. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 608571;
Origin ID : 608571;
UMLS CUI : C1837830;
Currated CISMeF NLP mapping
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
