Arachnodactyly-abnormal ossification-intellectual disability syndrome

Orpha code: 1129OMIM code:

Definition

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
Classification

Malformation syndrome

Synonyms
Kosztolanyi syndrome
Zespół Kosztolanyi
ORPHA code
1129
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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