BMS1 gene related symptoms and diseases

All the information presented here about the BMS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BMS1 gene

Symptoms // Phenotype % Cases
Syndactyly Very Common - Between 80% and 100% cases
Calvarial skull defect Very Common - Between 80% and 100% cases
Congenital localized absence of skin Very Common - Between 80% and 100% cases
Unilateral facial palsy Very Common - Between 80% and 100% cases
Abnormality of bone mineral density Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BMS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lop ear
  • Spinal dysraphism
  • Aplasia cutis congenita of scalp
  • Aplasia cutis congenita
  • Polydactyly
  • Prolonged bleeding time
  • Preaxial polydactyly
  • Skin ulcer

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BMS1 gene

Here you will find a list of rare diseases related to the BMS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

APLASIA CUTIS CONGENITA Is also known as scalp defect, congenital, congenital defect of skull and scalp


Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

Most common symptoms of APLASIA CUTIS CONGENITA

  • Syndactyly
  • Polydactyly
  • Facial palsy
  • Anal atresia
  • Pulmonary hypoplasia



Potential gene panels for BMS1 gene

BMS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BMS1 gene.

More info about this panel
United States.

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