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Cutis verticis gyrata - intellectual disability

Orpha number ORPHA1557
Synonym(s) McDowall syndrome
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal recessive
  • X-linked recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by the association of cutis verticis gyrata and intellectual deficit. The prevalence of this rare neurodermatological disorder is estimated at 1/100,000 males and 2.6/10 million females, but it is thought to represent 1 to 5% of patients in specialized mental health care facilities. Cutis verticis gyrata is characterized by the presence of folds and furrows on the scalp that cannot be corrected by pressure or traction. In the syndrome, this sign is associated with microcephaly, intellectual deficit, and sometimes with epilepsy and spastic tetraplegia. Chromosomal fragile sites have been reported in association with the syndrome, especially on chromosomes X, 9, 10, and 12. Magnetic resonance imaging (MRI) shows cortical and subcortical atrophy in some patients, with ventriculomegaly or polymicrogyria in others. In one of the reported patients, cryptorchidism indicated the presence of a state of hypergonadotrophic hypogonadism. In one family with five affected males in three sibships from two generations, the cutis verticis gyrata and intellectual deficit were combined with thyroid aplasia, but only the proband was examined in full. Although X-linked inheritance seemed likely in this family, most other cases of cutis verticis gyrata and intellectual deficit were sporadic and seemed to have autosomal inheritance.


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