Cartilage–hair hypoplasia syndrome

Also known as: McKusick metaphyseal chondrodysplasia

Short-limbed dwarfism with sparse hair and immunodeficiency.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: RMRP

Etiology & mechanism

RMRP RNA gene variants.

Gene(s) involved (1)

RMRP

Symptoms & signs (6)

fine sparse hairhirschsprung diseaseimmunodeficiencylymphoma riskmacrocytic anemiashort-limbed short stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.