1. Mendelian
  2. Rare Diseases
  3. HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Heart And Brain Malformation Syndrome; Hbms

Table of contents:

Description

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Genes related to Heart And Brain Malformation Syndrome; Hbms

  • SMG9

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Heart And Brain Malformation Syndrome; Hbms

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Visual impairment

And another 38 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Heart And Brain Malformation Syndrome; Hbms Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SMG9.

By Fulgent Genetics Fulgent Genetics (United States).

SMG9
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G RETINITIS PIGMENTOSA 40; RP40