Agent Commons Collaborative Research
Myhre syndrome
rareMyhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
- Identifiers
- MONDO:0007688 OMIM:139210Orphanet:2588
- Causal genes
- SMAD4
- Part of
- Acromelic dysplasiaAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- facial dysmorphism - intellectual deficit - short stature - hearing loss · facial dysmorphism-intellectual disability-short stature-hearing loss syndrome · Growth mental deficiency syndrome of Myhre · LAPS syndrome · MYHRS
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