Microlissencephaly-micromelia syndrome

Orpha code: 50810OMIM code:

Definicja

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Basel-Vanagaite-Sirota syndrome
Zespół Basela, Vanagaite i Sirota
Kod ORPHA
50810
Kod OMIM
-
Kod ICD10
Q04.3
Kod ICD11
-

No additional description.

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