Preferred Label : Tibial hemimelia;
CISMeF acronym : THM;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Tibia, absence of; THM;
Description : Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively
intact fibula. Jones et al. (1978) classified the anomaly into 4 types according to
radiologic criteria. It may present as an isolated anomaly or be associated with a
variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute
a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang
complex (228250) and triphalangeal thumb-polysyndactyly syndrome (see 174500 and 188770)
(Matsuyama et al., 2003). Emami-Ahari and Mahloudji (1974) described bilateral absence
of the tibia in 3 children, 2 males and 1 female, of phenotypically normal but related
parents. No other anomalies were present and intelligence was normal. Jones et al.
(1978) reported affected brother and sister. McKay et al. (1984) reported affected
sisters. McKay et al. (1984) reviewed syndromes of congenital defects in which tibial
hemimelia is a feature. Richieri-Costa et al. (1987) reported on 37 patients belonging
to different families who had the tibial hemimelia/split-hand/split-foot syndrome.
Quoting others, they suggested that the maximum risk to the offspring of an affected
person married to an unaffected person is 8.6% and the maximum risk to a sib of an
isolated patient is 12.5%. They suggested that there are 4 well-established and 2
other possible autosomal dominant tibial hemimelia syndromes in addition to 2 types
with autosomal recessive inheritance. Richieri-Costa (1987) reported a Brazilian child,
born to consanguineous but healthy parents, who had cleft lip/palate in addition to
tibial hemimelia. Stevens and Moore (1999) described a girl with Langer-Giedion syndrome
(LGS; 150230), a contiguous gene syndrome caused by deletion in the 8q24.1 region.
The patient also showed bilateral tibial hemimelia and unilateral absence of the ulna.
Turleau et al. (1982) had described an 8-year-old boy with LGS and bilateral tibial
hemimelia. Although no genes involving limb development in the human had been identified
in the 8q24.1 region, 2 mouse syndromes with limb abnormalities mapped to the homologous
region of 9A1-A4: 'luxoid' (absent toes, radial and tibial hemimelia, preaxial polydactyly,
bent tail, and oligospermia) and 'aft' (abnormal feet and tail). Stevens and Moore
(1999) suggested that a gene involved in limb development is contiguous with the gene(s)
for LGS and that deletion of this gene causes tibial hemimelia. Matsuyama et al. (2003)
reported 2 Japanese brothers, aged 6 and 2 years, with tibial hemimelia, who were
born to unrelated, phenotypically normal parents. The type of tibial hemimelia and
associated malformations of hands and feet were quite different between the brothers.
Findings in the elder brother were compatible with the Gollop-Wolfgang complex, and
in the younger brother with tibial aplasia-ectrodactyly syndrome (119100). No mutations
were found in 3 candidate genes: Sonic hedgehog (SHH; 600725), HOXD11 (142986), and;
Inheritance : Autosomal recessive; also other dominant and recessive tibial hemimelia syndromes;
Prefixed ID : 275220;
Origin ID : 275220;
UMLS CUI : C0265633;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
