Synonyms: Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome | Jejunal atresia-microcephaly-ocular anomalies syndrome
A rare multiple congenital anomalies syndrome usually characterized by microcephaly ocular anomalies such as microphthalmia and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead hypertelorism microphthalmia dysplastic edematous deep-set eyes short palpebral fissures large or low set ears broad nasal root anteverted or broad nasal tip long philtrum micrognathia thin upper vermillion large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart brain craniofacial abnormalities renal hypoplasia and other anomalies (e.g. lower limb edema thrombocytopenia) are variably present. Rarely cases without intestinal atresia microcephaly or developmental delay can be found. Severe lethal cases have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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