BREATH-HOLDING SPELLS

General Information (adopted from Orphanet):

Synonyms, Signs: BHS
Number of Symptoms 12
OrphanetNr:
OMIM Id: 607578
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000708) Behavioral abnormality 212 / 7739
2
(HPO:0007185) Loss of consciousness 9 / 7739
3
(HPO:0000961) Cyanosis 60 / 7739
4
(HPO:0000980) Pallor 52 / 7739
5
(HPO:0001891) Iron deficiency anemia 22 / 7739
6
(OMIM) Cyanosis during episodes 1 / 7739
7
(OMIM) Pallor during episodes 1 / 7739
8
(OMIM) Hypoxic convulsions 1 / 7739
9
(OMIM) Involuntary and nonvolitional phenomenon 1 / 7739
10
(OMIM) Loss of postural tone 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Breathing stopped in expiration after a deep inspiration during crying or emotional upset 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration ...
Clinical Description OMIM DiMario (2001) attempted to document prospectively the natural history of severe BHS among 95 children with both cyanotic and pallid BHS who were referred for neurologic consultation. Median onset age was between 6 and 12 months of age, ...