Myhre syndrome
Myhre 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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0019695
acromelic dysplasia
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
Growth mental deficiency syndrome of Myhre
related
LAPS syndrome
related
MYHRS
related
Myhre syndrome
exact
facial dysmorphism - intellectual deficit - short stature - hearing loss
related
facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
exact