Aredyld

AREDYLD, the acronym derived from the main features of a syndrome described by Pinheiro et al. (1983) and used by them as its name, comes from acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. (Being unpronounceable as a word, not easily spelled out, and certainly not mnemonic, it is of dubious acceptability.) The description was based on the 22-year-old daughter of second-cousin parents who had lipoatrophic diabetes, unusual facial appearance (mandibular prognathism, peculiarly shaped nose, pronounced antitragal incisura), generalized hypotrichosis, 2 natal teeth with enamel dysplasia, eruption of 4 dysplastic deciduous teeth, absence of permanent dentition, low birth weight, aplasia of the right breast and hypoplasia of the other, short right fifth metacarpal, etc. The renal abnormalities seem to have been minor: 'hypotonia of the right ureter and hypoplasia of the right major renal calyx.' A sister had low birth weight and sparse hair and died at age 1.5 years. Two brothers and 5 sisters were normal. The authors favored a pleiotropic recessive gene rather than close linkage of 2 recessive mutations. Breslau-Siderius et al. (1992) described a 19-year-old female with ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia. The patient had hypodontia, sparse and slow-growing scalp hair, sparse eyebrows and axillary and pubic hair, and transverse as well as longitudinal grooves of the fingernails.