Microlissencephaly-micromelia syndrome
| Classification according to ICD-10 | |
|---|---|
| Q04.3 | Other forms of brain reduction |
| ICD-10 online (WHO version 2019) | |
The microlissencephaly-micromelia syndrome is a very rare congenital disease with the main features microcephaly , lissencephaly and micromelia .
Synonym : Basel-Vanagaite-Sirota syndrome
The name refers to the main authors of the first description from 2003 by the Israeli human geneticist Lina Basel-Vanagaite and colleagues.
The syndrome should not be confused with the Basel-Vanagaite-Smirin-Yosef syndrome .
Similar syndromes were described in 1980 with microcephaly, intrauterine growth retardation and micromelia and in 1998 with microcephaly, facial abnormalities, micromelia and mental retardation
Spread and cause
The frequency is given as less than 1 in 1,000,000, so far two sisters have been described. The inheritance is presumably autosomal - recessive , the cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Onset of illness at birth or shortly afterwards
- Die in early childhood
- Short arms, dysmorphism , seizures
- absent or gross gyration frontal
- lack of reflexes
In addition to hypoparathyroidism and hypertrichosis come.
Individual evidence
- ↑ a b Microlissencephaly - Micromelia. In: Orphanet (Rare Disease Database).
- ^ A b L. Basel-Vanagaite, N. Marcus, G. Klinger, M. Shohat, O. Levit, B. Karmazin, E. Taub, L. Sirota: New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death. In: American journal of medical genetics. Part A. Volume 119A, number 2, June 2003, pp. 200-206, doi: 10.1002 / ajmg.a.20133 , PMID 12749064 .
- ↑ Basel-Vanagait-Smirin-Yosef syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ EJ Ives, CS Houston: Autosomal recessive microcephaly and micromelia in Cree Indians. In: American journal of medical genetics. Volume 7, Number 3, 1980, pp. 351-360, doi: 10.1002 / ajmg.1320070317 , PMID 7468660 .
- ↑ Microcephaly-micromelia syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ M. Tsukahara, Y. Sugio: New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation. In: Journal of human genetics. Volume 43, Number 4, 1998, pp. 224-227, doi: 10.1007 / s100380050077 , PMID 9852671 .
- ↑ Malacards
