Cutis gyrata - acanthosis nigricans - craniosynostosis

General Information (adopted from Orphanet):

Synonyms, Signs: CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
BEARE-STEVENSON SYNDROME
BSTVS
Beare-Stevenson cutis gyrata syndrome
Number of Symptoms 59
OrphanetNr: 1555
OMIM Id: 123790
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
3
 (HPO:0000045) Abnormality of the scrotum Frequent [Orphanet] 14 / 7739
4
 (HPO:0003246) Prominent scrotal raphe 2 / 7739
5
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
8
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
9
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
10
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
11
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
12
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
13
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
14
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
15
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
16
 (HPO:0000452) Choanal stenosis 23 / 7739
17
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
18
 (HPO:0000189) Narrow palate 45 / 7739
19
 (HPO:0000453) Choanal atresia Very frequent [Orphanet] 76 / 7739
20
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
21
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
22
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
23
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
24
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
25
 (HPO:0002676) Cloverleaf skull 14 / 7739
26
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
27
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
28
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
29
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
30
 (HPO:0004450) Preauricular skin furrow 1 / 7739
31
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
32
 (HPO:0011262) Crimped helix Occasional [Orphanet] 12 / 7739
33
 (HPO:0001263) Global developmental delay 853 / 7739
34
 (HPO:0001377) Limited elbow extension 38 / 7739
35
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
36
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
37
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
38
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
39
 (HPO:0001792) Small nail 55 / 7739
40
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
41
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
42
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
43
 (HPO:0000956) Acanthosis nigricans Very frequent [Orphanet] 54 / 7739
44
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
45
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
46
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
47
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
48
 (HPO:0002098) Respiratory distress 75 / 7739
49
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
50
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
51
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
52
 (OMIM) Prominent umbilical stump 1 / 7739
53
 (OMIM) Cutaneous and mucosal skin tags 1 / 7739
54
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
55
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
56
 (OMIM) Normal intrauterine growth 1 / 7739
57
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
58
 (OMIM) Rugose labia majora 1 / 7739
59
 (OMIM) Cutis gyrata 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Beare et al. (1969) and Stevenson et al. (1978) described a syndrome which was further delineated by Hall et al. (1992). The syndrome consists of craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, ...
Molecular genetics OMIM In 3 patients with sporadic Beare-Stevenson cutis gyrata syndrome, Przylepa et al. (1996) identified 2 different heterozygous mutations in the FGFR2 gene (176943.0015; 176943.0016). No mutations were identified in 2 additional patients, suggesting genetic heterogeneity.

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