Craniosynostosis-dental anomalies

Orpha code: 284149OMIM code: 614188

Definition

Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
Kreiborg-Pakistani syndrome
Zespół Kreiborga i Pakistaniego
ORPHA code
284149
OMIM code
614188
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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