Summary
Alopecia-contractures-dwarfism-mental retardation syndrome is characterised by the association of alopecia/sparse hair with severe growth retardation of prenatal onset, multiple joint contractures (elbows, fingers, and knees) and fusions of various bones, and microcephaly with mental retardation. It has been described in five patients, two of whom were brothers and another the offspring of first-cousin parents. Ectodermal dysplasia may appear also as ichthyosis, hypohidrosis, or hypolacrimation. Skeletal anomalies may include thoracic kyphoscoliosis, dislocation of the hips, short digits with particularly shortened second phalanges and mild cutaneous syndactyly. Other features were seen inconstantly: prominent nose with increased intercanthal distance, turricephaly, large and soft ears, teeth caries with enamel dysplasia, celiac disease, cryptorchidism, and inguinal herniae. Photophobia and optic atrophy were observed in one patient. Immune disorders were also reported: recurrent respiratory infections in one case, juvenile autoimmune thyroiditis in another. The syndrome is likely to be inherited as an autosomal recessive trait. *Author: Orphanet (April 2005)*.
