Preferred Label : Genu valgum, st. helena familial;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Genu valgum, hereditary pubertal;
Description : Beighton et al. (1986) described a family with severe 'knock-knees' and variable lesser
malalignment at the elbows and wrists in members of 3 generations. The disorder was
considered to be the consequence of hypoplasia of the corresponding bony condyles
with subsequent progressive degenerative osteoarthropathy. Three generations and 5
sibships were affected with instances of male-to-male transmission. The family lived
on the island of St. Helena in the mid-Atlantic (Shine, 1970). See 273050 for description
of a probable autosomal recessive disorder with genu valgum as a conspicuous feature.
Ghorbani and Carapetian (1994) described an Iranian Kurdish family in northwest Iran
in which 5 brothers who had passed puberty showed severe genu valgum and a sixth brother
showed initial symptoms at the age of 12 years. Since the father was unaffected and
2 affected sons were by a first marriage and the others by a second, Ghorbani and
Carapetian (1994) suggested that the disorder represented a new autosomal dominant
mutation present as gonadal mosaicism in the father. Five daughters were unaffected,
but only 1 postpubertal son, suggesting male-limited expression. *FIELD* RF 1. Beighton,
P.; Myers, H. S.; Aldridge, S. J.; Sedgewick, J.; Eickhoff, S.: St. Helena familial
genu valgum. Clin. Genet. 30: 309-314, 1986. 2. Ghorbani, K.; Carapetian, J.: Hereditary
pubertal genu valgum in Iran. Clin. Genet. 45: 190-193, 1994. 3. Shine, I.: Serendipity
in St. Helena: A Genetical and Medical Study of an Isolated Community. Oxford: Pergamon
Press (pub.) 1970. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 137370;
Origin ID : 137370;
UMLS CUI : C1842052;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
