Microlissencephaly-micromelia syndrome

Orpha code: 50810OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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