Odontotrichomelic syndrome

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Synonyms: Freire-Maia syndrome

A rare genetic disease characterized by intellectual disability growth delay absence deformities of upper and lower limbs hypotrichosis hypoplastic nails abnormal dentition abnormal auricles hypoplastic nipples thyroid enlargement and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Odontotrichomelic syndrome?

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