Hennekam-Beemer syndrome
Findings
No curated finding names Hennekam-Beemer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
59 features
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.
- Conductive hearing impairmentHPOHP:0000405
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Cutaneous mastocytosisHPOHP:0200151
- 3 of 3 reported patients
- High palateHPOHP:0000218
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: Hennekam-Beemer syndrome
- Also called
- mastocytosis-short stature-hearing loss syndrome