trichorhinophalangeal syndrome type II

Findings

No curated finding names trichorhinophalangeal syndrome type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Infantile onset · Childhood onset

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.

Where it sits

A kind of

• autosomal dominant disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• partial deletion of the long arm of chromosome 8
• trichorhinophalangeal syndrome

Resolves to: trichorhinophalangeal syndrome type II

Also called

deletion 8q24.1Langer-Giedion syndromemonosomy 8q24.1trichorhinophalangeal syndrome type 2