Menke-Hennekam syndrome

Orpha code: 592574OMIM code:

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum.

Disease data
Classification

Malformation syndrome

ORPHA code
592574
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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