Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
ORPHA:280679
The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease is highest in Japan and other Asian countries, in comparison with other parts of the world.
Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism, and other variable manifestations including stroke, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, azoospermia, and early bilateral acquired cataract. Moyamoya angiopathy causes cerebral infarcts or hemorrhage and acute neurological symptoms. Facial dysmorphism is characterized by hypertelorism, flared nares, long philtrum, and mild ptosis. Carrier females are not affected.
The genetic cause appears to involve Xq28 deletions removing MTCP1/CMC4and BRCC3 (Xq28) .The specific pathophysiological mechanisms underlying this disorder remain obscure, but appear to involve alteration in DNA repair.
Reported cases are suggestive of a hereditary syndrome with an X-linked recessive pattern of inheritance.
Last update: April 2015
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Disease review articles
Genetic testing
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening