Barber-Say syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA
Hypertrichosis - atrophic skin - ectropion - macrostomia
Number of Symptoms 49
OrphanetNr: 1231
OMIM Id: 209885
ICD-10: Q87.0
UMLs: C1319466
MeSH: C537908
MedDRA:
Snomed: 408537003

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital entropion
 -Rare eye disease
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Hypertrichosis
 -Rare genetic disease
 -Rare skin disease
Microblepharon - ablephara
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Secondary ectropion
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum Occasional [Orphanet] 31 / 7739
2
 (HPO:0000055) Abnormality of female external genitalia 5 / 7739
3
 (HPO:0000032) Abnormality of male external genitalia 1 / 7739
4
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
5
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
8
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
9
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
10
 (HPO:0000303) Mandibular prognathia 179 / 7739
11
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
12
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
13
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
14
 (HPO:0000414) Bulbous nose 63 / 7739
15
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
16
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
17
 (HPO:0000656) Ectropion 25 / 7739
18
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
19
 (HPO:0000233) Thin vermilion border 124 / 7739
20
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] rare [HPO:skoehler] 117 / 7739
21
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
22
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
23
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
24
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
25
 (HPO:0002705) High, narrow palate 308 / 7739
26
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
27
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000377) Abnormality of the pinna 111 / 7739
30
 (HPO:0000365) Hearing impairment 539 / 7739
31
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
32
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
33
 (HPO:0002557) Hypoplastic nipples 33 / 7739
34
 (HPO:0100783) Breast aplasia Frequent [Orphanet] 19 / 7739
35
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
36
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
37
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
38
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
39
 (HPO:0000998) Hypertrichosis 52 / 7739
40
 (HPO:0004334) Dermal atrophy 34 / 7739
41
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
42
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
43
 (HPO:0000958) Dry skin 152 / 7739
44
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
46
 (OMIM) Anomalous 1 / 7739
47
 (OMIM) Nipples hypoplastic or absent 1 / 7739
48
 (OMIM) Eyelid ectropion 1 / 7739
49
 (OMIM) Alae nasi hypoplastic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Barber-Say syndrome is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip ...
Clinical Description OMIM Barber et al. (1982) described a patient with a previously unreported pattern of multiple congenital anomalies consisting of macrostomia, ectropion, atrophic skin, marked hypertrichosis, and growth retardation.

Cesarino et al. (1988) described a male infant with ...