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  3. SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Spinal Muscular Atrophy With Congenital Bone Fractures 1; Smabf1

Table of contents:

Description

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Genes related to Spinal Muscular Atrophy With Congenital Bone Fractures 1; Smabf1

  • TRIP4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Spinal Muscular Atrophy With Congenital Bone Fractures 1; Smabf1

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory distress

And another 28 symptoms. If you need more information about this disease we can help you.

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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.

Spinal Muscular Atrophy With Congenital Bone Fractures 1; Smabf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRIP4.

By Fulgent Genetics Fulgent Genetics (United States).

TRIP4
Specificity
100 %
Genes
100 %
SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF).

By Laboratorio de Genetica Clinica SL (Spain).

TRIP4, ASCC1
Specificity
50 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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