BARAITSER-WINTER SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION
BRWS1
Number of Symptoms 37
OrphanetNr:
OMIM Id: 243310
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000054) Micropenis 257 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0000219) Thin upper lip vermilion 112 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0003196) Short nose 264 / 7739
6
(HPO:0007930) Prominent epicanthal folds 4 / 7739
7
(HPO:0000316) Hypertelorism 644 / 7739
8
(HPO:0002162) Low posterior hairline 88 / 7739
9
(HPO:0000154) Wide mouth 137 / 7739
10
(HPO:0000431) Wide nasal bridge 290 / 7739
11
(HPO:0000470) Short neck 345 / 7739
12
(HPO:0000243) Trigonocephaly 40 / 7739
13
(HPO:0000343) Long philtrum 262 / 7739
14
(HPO:0000508) Ptosis 459 / 7739
15
(HPO:0000567) Chorioretinal coloboma 26 / 7739
16
(HPO:0000612) Iris coloboma 116 / 7739
17
(HPO:0000396) Overfolded helix 21 / 7739
18
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
19
(HPO:0000369) Low-set ears 372 / 7739
20
(HPO:0001263) Global developmental delay 853 / 7739
21
(HPO:0001250) Seizures 1245 / 7739
22
(HPO:0004322) Short stature 1232 / 7739
23
(HPO:0008897) Postnatal growth retardation 113 / 7739
24
(HPO:0001650) Aortic valve stenosis 49 / 7739
25
(HPO:0001643) Patent ductus arteriosus 228 / 7739
26
(HPO:0001647) Bicuspid aortic valve 34 / 7739
27
(HPO:0001252) Muscular hypotonia 990 / 7739
28
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
(HPO:0001324) Muscle weakness 859 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
32
(OMIM) Weight in childhood <5th percentile 1 / 7739
33
(HPO:0001339) Lissencephaly 30 / 7739
34
(OMIM) Focal pachygyria 2 / 7739
35
(OMIM) Metopic ridging 1 / 7739
36
(OMIM) chromosome inversion - inv2(p12q14) in 2 patients 1 / 7739
37
(OMIM) Height in childhood <5th percentile 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Baraitser-Winter syndrome is a rare but well-defined developmental disorder recognized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, ...
Clinical Description OMIM In a girl with unrelated parents, Baraitser and Winter (1988) described a seemingly distinct syndrome of iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, prominent epicanthal folds, short stature, and mental retardation. This report also contained the description ...
Molecular genetics OMIM Riviere et al. (2012) performed whole-exome sequencing in 3 proband-parent trios and identified de novo missense changes in the cytoplasmic actin-coding genes ACTB and ACTG1 (102560) in 1 and 2 probands, respectively. The ACTB mutation in the proband ...