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growth retardation, developmental delay, coarse facies, and early death (GDFD)

The syndrome shows the growth retardation and developmental delay, coarse facies, and early death can be caused by homozygous mutation in the FTO gene (610966) on chromosome 16q12.

Boissel et al. (2009) reported a consanguineous Palestinian Arab family in which 9 individuals had a severe multiple congenital anomaly syndrome with death by age 3 years. Clinical features included coarse face with anteverted nostrils, thin vermilion, prominent alveolar ridge, retrognathia, and protruding tongue. All had severe failure to thrive in infancy, and 3 had intrauterine growth retardation. Six patients had heart defects, including ventricular septal defect, atrioventricular defect, and patent arteriosus, and 4 had hypertrophic cardiomyopathy. All showed severe developmental delay and microcephaly variably combined with lissencephaly, seizures, or Dandy-Walker malformation. Other features included short neck, brachydactyly, toenail hypoplasia, neurosensory deafness, umbilical hernia, hypertrophy of the labia, undescended testes, cleft palate, and optic disc abnormalities. Cultured skin fibroblasts from 1 patient showed altered morphology with increased number of vacuoles and cellular debris and decreased life span, suggesting premature senescence.

OTHER NAME(S): GDFD syndrome

ABREVIATION(S):
GDFD

TYPE: mental retardation (MR), skeletal abnormalities, sexual immaturity, facial anomalies, growth retardation

DNAtraffic protein(s) related to disease: FTO

OMIM: 612938

Last modification date: Aug. 25, 2011