Macrocephaly-mental retardation-facial dysmorphism syndrome
Incidence
autosomal dominant inheritance (Very frequent sign)
Clinical Characteristics
The following signs are seen very frequently: kiphosis, broad nose, macrocephaly, hypertelorism, broad forehead, anteverted nares, abnormal dental position, prominent supraorbital ridges, autosomal dominant inheritance, mental retardation (moderate/severe). These other signs are also seen frequently: scoliosis, coarse face, genu valgum, microdontia, abnormal gait, long/large ear, genu recurvatum, everted lower lip, exostoses in palate, generalized obesity, increased body hair, seizures ( any type), short stature/dwarfism, behaviour disorder/autism, hypertonia/spasticity/rigidity, tongue/gingiva/mucosa anomalies. These other signs were seen occasionally: brachydactyly, epicanthic folds, syndactyly of toes, hyperextensible joints, spindle shaped fingers, clinodactyly of fifth finger. Neuro : Mental retardation, Underdeveloped brain precentral area HEENT : Optic atrophy, Large head, Macrocephaly, Megalencephaly, Coarse facies. Muscle : Underdeveloped skeletal musculature. Endocrine : Adrenal medullary hypoplasia
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis.