title: Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
abstract: Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.
authors.affiliation: Institute of Social Pediatrics and Adolescent Medicine, University of Munich, Munich, Germany. schell-apacik@gmx.de
authors.forename: Chayim
authors.initials: C
authors.lastname: Schell-Apacik
authors.forename: Michael
authors.initials: M
authors.lastname: Hardt
authors.forename: Birgit
authors.initials: B
authors.lastname: Ertl-Wagner
authors.forename: Eva
authors.initials: E
authors.lastname: Klopocki
authors.forename: Matthias
authors.initials: M
authors.lastname: Möhrenschlager
authors.forename: Uwe
authors.initials: U
authors.lastname: Heinrich
authors.forename: Hubertus
authors.initials: H
authors.lastname: von Voss
mesh_terms: D000505:Alopecia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004392:Dwarfism / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D013577:Syndrome