ANOTHER syndrome

Classification according to ICD-10
Q82.4	Ectodermal dysplasia (anhidrotic)
ICD-10 online (WHO version 2019)

The ANOTHER syndrome , acronym for A lopezie , N ageldystrophie , O phthalmologische complications , T hyroidea dysfunction, H ypohidrose , E pheliden (freckles), E nteropathie and R espirationstrakt infections, is a very rare inherited disorder .

Synonyms are: dysplasia, ectodermal hypohidrotic - hypothyroidism - ciliary dyskinesia ; HEDH syndrome , acronym for H ypohidrotische E ktodermale D ysplasie with H ypothyroidismus and ciliary dyskinesia

The name was suggested by MG Pike , first author of a description from 1986.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

Clinical manifestations

Clinical criteria are:

Alopecia
Nail dystrophy
ophthalmic complications
Thyroid dysfunction, mainly hypothyroidism
Hypohidrosis
Freckles
Enteropathy
Respiratory infections due to ciliary dyskinesia.

Individual evidence

↑ ^a ^b ANOTHER syndrome. In: Orphanet (Rare Disease Database).
↑ ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA. In: Online Mendelian Inheritance in Man . (English)
^ MG Pike, M. Baraitser, R. Dinwiddie, DJ Atherton: A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. In: The Journal of Pediatrics . Vol. 108, No. 1, January 1986, pp. 109-111, PMID 3944674 .

Web links

Rare Diseases

[Orpha-1] ANOTHER syndrome. In: Orphanet (Rare Disease Database).

[2] ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA. In: Online Mendelian Inheritance in Man . (English)

[3] MG Pike, M. Baraitser, R. Dinwiddie, DJ Atherton: A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. In: The Journal of Pediatrics . Vol. 108, No. 1, January 1986, pp. 109-111, PMID 3944674 .