DPF2 gene related symptoms and diseases

All the information presented here about the DPF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM.

Top 5 symptoms associated to DPF2 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Elbow dislocation	Very Common - Between 80% and 100% cases
Short distal phalanx of finger	Very Common - Between 80% and 100% cases
Thick lower lip vermilion	Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia	Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with DPF2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Depressed nasal ridge

Not very common - Between 30% and 50% cases

Dandy-Walker malformation

Commonly - More than 50% cases

Long eyelashes

Not very common - Between 30% and 50% cases

Generalized hirsutism

Commonly - More than 50% cases

Bilateral single transverse palmar creases

Not very common - Between 30% and 50% cases

Spina bifida occulta

Commonly - More than 50% cases

Coxa valga

Not very common - Between 30% and 50% cases

Renal hypoplasia/aplasia

And 45 more phenotypes.

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DPF2 gene

Here you will find a list of rare diseases related to the DPF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

COFFIN-SIRIS SYNDROME

Alternate names

COFFIN-SIRIS SYNDROME Is also known as css

Description

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.