A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address: vinkler2@gmail.com.
Chana
C
Vinkler
Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Esther
E
Leshinsky-Silver
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Marina
M
Michelson
Division of Inborn Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld, Heidelberg, Germany.
Dorothea
D
Haas
Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Tally
T
Lerman-Sagie
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: dorlev@post.tau.ac.il.
Dorit
D
Lev
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology*; D035781:Siblings; D013577:Syndrome
Intellectual disability; Low cholesterol; Microcephaly; Small stature