Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

European journal of medical genetics - 1 Mar 2026

Insalaco Anna, Rossi Cecilia, Bertucci Emma, Fiorentini Chiara, Soresina Annarosa, Giliani Silvia, Porta Fulvio, Berardi Alberto, Lugli Licia

Abstract excerpt

Cartilage hair hypoplasia (CHH) syndrome (OMIM #250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hypotrichosis and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases, and predisposition to malignancies. CHH results from homozygous or compound heterozygous mutations in the RMRP gene on chromosome 9p13, which...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Endoribonucleases
Share to Hair

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hirschsprung Disease

Share to Infant, Newborn

Share to Osteochondrodysplasias

Share to Primary Immunodeficiency Diseases

Share to RNA, Long Noncoding

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 41616907
DOI: 10.1016/j.ejmg.2026.105069

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.PMID 41616907Read ↗

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.Semantic proximity Read ↗

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.Semantic proximity Read ↗

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.Semantic proximity Read ↗

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.Semantic proximity Read ↗

Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.Semantic proximity Read ↗

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.Semantic proximity Read ↗

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.Semantic proximity Read ↗

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.Semantic proximity Read ↗

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.Semantic proximity Read ↗

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.