Hematology · Hematology / Bone marrow failure
Cartilage–hair hypoplasia syndrome
also: McKusick metaphyseal chondrodysplasia
Short-limbed dwarfism with sparse hair and immunodeficiency.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- RMRP
- Alternative names & eponyms
- McKusick metaphyseal chondrodysplasia
Etiology & mechanism
RMRP RNA gene variants.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Cartilage–hair hypoplasia syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Ataxia-telangiectasia
immunodeficiency
1 shared
Autoimmune lymphoproliferative syndrome
lymphoma risk
1 shared
Bloom syndrome
immunodeficiency
1 shared
Central alveolar hypoventilation syndrome
hirschsprung disease
1 shared
Diamond–Blackfan anemia
macrocytic anemia
1 shared
Folate malabsorption syndrome
immunodeficiency
1 shared
Griscelli syndrome
immunodeficiency
1 shared
Hoyeraal–Hreidarsson syndrome
immunodeficiency
1 shared
Mowat–Wilson syndrome
hirschsprung disease
1 shared
Multiple endocrine neoplasia type 2A
hirschsprung disease
Shares genes with
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