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Cutaneous mastocytosis-deafness-microtia syndrome
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.
ORPHA:2135
Classification level: Disorder
- Mastocytosis-short stature-hearing loss syndrome
- Cutaneous mastocytosis-hearing loss-microtia syndrome
- Mastocytosis-short stature-deafness syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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