BOWEN SYNDROME OF MULTIPLE MALFORMATIONS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 211200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0000057) Clitoromegaly 30 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0001087) Congenital glaucoma 12 / 7739
5
(HPO:0000598) Abnormality of the ear 98 / 7739
6
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
7
(HPO:0001508) Failure to thrive 454 / 7739
8
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
9
(OMIM) Early death 13 / 7739
10
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Small 3 / 7739
13
(HPO:0003819) Death in childhood 42 / 7739
14
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
15
(OMIM) Absent or weak sucking and swallowing 1 / 7739
16
(OMIM) Malformed 1 / 7739
17
(OMIM) Finger flexion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bowen et al. (1964) described 2 families, each with 2 sibs displaying features suggesting autosomal trisomy, particularly trisomy 18; however, no chromosomal abnormality was identified. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger ...