Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

What it is

A rare syndromic craniosynostosis characterized by developmental delay, poor gross and/or fine motor control, speech and language delay, learning difficulties and/or behavioral problems (including hyperactivity and poor concentration), facial dysmorphism and Chiari-1 malformation (not always present). Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplactic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits.

Key facts

Inheritance

Autosomal dominant

Classified as

Malformation syndrome

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references