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Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
ORPHA:2714Classification level: Disorder
- Oculo-palato-cerebral dwarfism
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.1
- OMIM: 257910
- UMLS: C1850338
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in five patients (three boys and two girls).
Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy. The clinical manifestations are evident from birth. The palate anomaly is usually cleft palate. In the majority of cases, postnatal growth is marked by statural (between -2.5 and -4 SD) and ponderal retardation. Microcephaly is present in all patients (between -2 and -5.6 SD). Persistent hyperplastic primary vitreous (uni- or bilateral) was present in all cases reported so far and may be associated with microphthalmia, cataract or optic atrophy. Facial dysmorphology is characterised by full cheeks, a bulbous nasal tip, and long ears with thickened helices. Hands and feet are small. Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature and is associated with cerebral atrpohy or quadriplegia in some cases. Hearing difficulties may also be present and a tendency for atopy is often noted.
So far, neither a causative gene nor locus has been identified.
Diagnosis is based in the clinical manifestations, in particular on the presence of a persistent hyperplastic primary vitreous in association with other malformations.
Differential diagnosis should include cerebro-oculo-nasal syndrome (see this term) and other syndromes associated with a persistent hyperplastic primary vitreous.
Prenatal diagnosis is possible but relies on detection of the malformations and growth retardation by foetal ultrasound.
Familial reoccurrence and evidence of consanguinity in two of the three reported families are suggestive of autosomal recessive inheritance. Genetic counselling of families with an affected child should take into account a risk of reoccurrence of 25%.
Management and treatment
Treatment should include surgical correction of the palate anomalies and management of the visual problems. Physical and speech therapy should also be recommended.
Although no data are available on the long-term prognosis, the nature of the anomalies suggests that life expectancy for these patients is normal.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)