Orphanet: Blepharophimosis intellectual disability syndrome, Verloes type

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Blepharophimosis-intellectual disability syndrome, Verloes type

Disease definition

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.

ORPHA:293725

Classification level: Disorder

Synonym(s):
- BMRS type V
- BMRS, Verloes type
- Blepharophimosis-intellectual disability syndrome type V
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 604314
UMLS: C4755262
MeSH: -
GARD: -
MedDRA: -

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Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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