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Definition

An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies.

Acronym

DEDSSH

Synonyms

Loucks-Innes syndrome

Keywords

Ectodermal dysplasia
Dwarfism
Mental retardation
Hypotrichosis

 
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