Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Preferred Name

Lacrimo-auriculo-dento-digital syndrome

Synonyms

LADDS

Definitions

(LADDS) - An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic|hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.

ID

http://identifiers.org/omim/149730

altLabel

LADDS

definition

(LADDS) - An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic|hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.

id

OMIM:149730

notation

OMIM:149730

prefLabel

Lacrimo-auriculo-dento-digital syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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