Preferred Label : Postaxial oligodactyly, tetramelic;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Postaxial limb deficiencies are most frequently unilateral and sporadic. They also
occur as a feature of a number of syndromes including the Schinzel ulnar-mammary syndrome
(181450), postaxial acrofacial dysostosis (263750), Weyers acrofacial dysostosis (193530),
the femur-fibula-ulna syndrome (228200), and the Cornelia de Lange syndrome (122470).
Wulfsberg et al. (1993) described, apparently for the first time, autosomal dominant,
nonsyndromic, tetramelic postaxial oligodactyly. Members of 4 generations were affected
with 2 instances of male-to-male transmission reported in the first 2 generations.
Wulfsberg et al. (1993) described in detail an affected mother and her 3 affected
children. The postaxial deficiency ranged from complete absence of the fifth metacarpals,
metatarsals, and phalanges to complete absence of the fifth metacarpals and metatarsals
with some residual distal fifth phalanges. Because of studies in chick and mouse embryos
suggesting that 5-prime members of the Hox-4 gene cluster are responsible for interpreting
positional information to effect digit formation, Wulfsberg et al. (1993) suggested
that a defect in HOX4 gene patterning of hand and foot formation may be responsible.
The most 5-prime members of the HOX4 cluster in the human are HOX4F (142986), HOX4D
(142984), HOX4C (142982), and HOX4E (142985), in that order. *FIELD* RF 1. Wulfsberg,
E. A.; Mirkinson, L. J.; Meister, S. J.: Autosomal dominant tetramelic postaxial oligodactyly.
Am. J. Med. Genet. 46: 579-583, 1993. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 176240;
Origin ID : 176240;
UMLS CUI : C1867924;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
