Arachnodactyly-abnormal ossification-intellectual disability syndrome

Orpha code: 1129OMIM code:

Definicja

A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Kosztolanyi syndrome
Zespół Kosztolanyi
Kod ORPHA
1129
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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