Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism; Mymy4
Description
This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).
Genes related to Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism; Mymy4
- BRCC3
Clinical Features
Top most frequent phenotypes and symptoms related to Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism; Mymy4
- Seizures
- Global developmental delay
- Short stature
- Hypertelorism
- Ptosis
- Abnormal facial shape
- Cataract
- Myopathy
- Low-set ears
- Hypertension
Incidence and onset information
— Not enough data available about incidence and published cases.
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Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism; Mymy4 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
BRCC3.
By Fulgent Genetics Fulgent Genetics in United States.
BRCC3
Specificity
100 %
Genes
100 % |
Alternate names
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism; Mymy4 Is also known as chromosome xq28 deletion syndrome, 3.4-kb, syndromic moyamoya disease;moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism.
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