Acrofrontofacionasal dysostosis syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1784

Definition

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Epidemiology

Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil.

Clinical description

The cranio-facial malformations are numerous and variable. They include brachycephaly or microbrachycephaly, prominent forehead with low frontal and occipital hairline, wide anterior fontanel, hypertelorism, large philtrum, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Other skeletal malformations are also present, with syndactyly of fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, coloboma of the upper lids, cataract, congenital glaucoma and iris atrophy. In some male patients, hypospadias, with or without cleft glans, and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration (without any corpus callosum abnormality). Encephalocele may occur.

Etiology

The etiology of acro-fronto-facio-nasal dysostosis is unknown.

Genetic counseling

Autosomal recessive transmission is probable.

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