Atrichia associated with mental retardation

Heterogeneous group of congenital (predominantly autosomal recessive inherited) atrichia/hypotrichoses associated with mental retardation and with/without other syndrome-typical abnormalities.

Atrichia syndromes with mental retardation without associated non-neurological abnormalities can be distinguished (Timar et al. 1993):

• Atrichia with mental retardation and microcephaly (MIM 203650)
• Atrichia with mental retardation, pathological encephalogram and epilepsy (MIM 203600)
• Hypotrichosis with psychomotor retardation, microcephaly and epilepsy.

Atrichia syndromes with mental retardation and associated non-neurological anomalies can be distinguished (Timar et al. 1993):

• Atrichia with horny cysts and mental retardation (Del Castillo et al. 1974)
• Shokeir Syndrome (MIM 104130): Near universal atrichia/hypothyroidism with mental retardation, pyorrhea and adult-onset temporal lobe epilepsy (Shokeir 1977)
• Atrichia with horny cysts, mental retardation, seizures, sensorineural deafness and partial syndactyly (Perniola et al. 1980)
• Atrichia with mental retardation and dwarfism and with/without epilepsy

Ectodermal dysplasias with atrichia/hypotrichosis and mental retardation

• XTE syndrome (Xeroderma talipes enamel defect-) or ectodermal dysplasia with xeroderma (Moynahan 1970)
• Ectodermal dysplasia with severe mental retardation
• Dermatotrichic syndrome (ectodermal dysplasia with congenital universal atrichia, nail dystrophy and hypohidrosis and generalized ichthyosiform ichth

Mostly autosomal recessive inherited genodermatoses with unknown pathogenesis. The rare Shokeir syndrome and the XTE syndrome are inherited autosomal dominant. The inheritance of ectodermal dysplasias with mental retardation is unknown.