IFAP syndrome 1, with or without BRESHECK syndrome

Findings

No curated finding names IFAP syndrome 1, with or without BRESHECK syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

Onset and course

Death in infancy · Congenital onset · Neonatal death · Death in childhood

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• IFAP syndrome
• X-linked recessive disease

Resolves to: IFAP syndrome 1, with or without BRESHECK syndrome

Also called

ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasiaIFAP syndrome with or without BRESHECK syndromeIFAP syndrome with or without BRESHECK syndrome, X-linked recessiveIFAP/BRESHECK syndrome