Scalp-ear-nipple syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SEN SYNDROME
SENS
finlay-marks syndrome
Number of Symptoms 74
OrphanetNr: 2036
OMIM Id: 181270
ICD-10: Q87.8
UMLs: C1867020
MeSH: C536623
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Deficient breast volume or number
 -Rare gynecologic or obstetric disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic mixed dermis disorder
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Mixed dermis disorder
 -Rare skin disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000010) Recurrent urinary tract infections Frequent [Orphanet] 56 / 7739
2
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
3
 (HPO:0000104) Renal agenesis rare [HPO:skoehler] 68 / 7739
4
 (HPO:0000089) Renal hypoplasia rare [HPO:skoehler] 78 / 7739
5
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
6
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
7
 (HPO:0000083) Renal insufficiency rare [HPO:skoehler] 232 / 7739
8
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
9
 (HPO:0012330) Pyelonephritis rare [HPO:skoehler] 7 / 7739
10
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
11
 (HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
12
 (HPO:0000581) Blepharophimosis rare [HPO:skoehler] 197 / 7739
13
 (HPO:0000303) Mandibular prognathia rare [HPO:skoehler] 179 / 7739
14
 (HPO:0005280) Depressed nasal bridge 381 / 7739
15
 (HPO:0000463) Anteverted nares rare [HPO:skoehler] 305 / 7739
16
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
17
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
18
 (HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
19
 (HPO:0100540) Palpebral edema 31 / 7739
20
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
21
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
22
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
23
 (HPO:0002000) Short columella rare [HPO:skoehler] 11 / 7739
24
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
25
 (HPO:0000519) Congenital cataract rare [HPO:skoehler] 73 / 7739
26
 (HPO:0000612) Iris coloboma rare [HPO:skoehler] 116 / 7739
27
 (HPO:0011251) Underdeveloped antitragus 1 / 7739
28
 (HPO:0011272) Underdeveloped tragus 2 / 7739
29
 (HPO:0000411) Protruding ear 140 / 7739
30
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
31
 (HPO:0000385) Small earlobe 9 / 7739
32
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
33
 (HPO:0000378) Cupped ear 34 / 7739
34
 (HPO:0008551) Microtia 98 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0009912) Abnormality of the tragus Very frequent [Orphanet] 12 / 7739
37
 (HPO:0000377) Abnormality of the pinna 111 / 7739
38
 (HPO:0009896) Abnormality of the antitragus Very frequent [Orphanet] 10 / 7739
39
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
40
 (HPO:0100783) Breast aplasia 19 / 7739
41
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Very frequent [Orphanet] 28 / 7739
42
 (HPO:0000818) Abnormality of the endocrine system 26 / 7739
43
 (HPO:0100651) Type I diabetes mellitus Frequent [Orphanet] 44 / 7739
44
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
45
 (HPO:0011939) 3-4 finger cutaneous syndactyly 2 / 7739
46
 (HPO:0000765) Abnormality of the thorax 64 / 7739
47
 (HPO:0002289) Alopecia universalis 20 / 7739
48
 (HPO:0002164) Nail dysplasia 82 / 7739
49
 (HPO:0001596) Alopecia 162 / 7739
50
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
51
 (HPO:0002224) Woolly hair 26 / 7739
52
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
53
 (HPO:0008070) Sparse hair rare [HPO:skoehler] 94 / 7739
54
 (HPO:0004528) Generalized hypotrichosis 18 / 7739
55
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
56
 (HPO:0000822) Hypertension Frequent [Orphanet] rare [HPO:skoehler] 224 / 7739
57
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
58
 (OMIM) Reduced axillary apocrine secretion 1 / 7739
59
 (OMIM) Partial third and fourth finger syndactyly (in some patients) 1 / 7739
60
 (OMIM) Folded superior edge of helix 1 / 7739
61
 (OMIM) Failure of breast enlargement and lactation with pregnancy 1 / 7739
62
 (OMIM) Reduced axillary hair and/or pubic hair 1 / 7739
63
 (OMIM) Bony defect (in some patients) 1 / 7739
64
 (OMIM) Congenital denuded areas of the posterior scalp 1 / 7739
65
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
66
 (OMIM) Asymmetric pupils (rare) 1 / 7739
67
 (OMIM) Pyeloureteral duplication (in some patients) 2 / 7739
68
 (OMIM) Coloboma of the lower eyelids (rare) 1 / 7739
69
 (OMIM) Widely spaced/missing secondary teeth 1 / 7739
70
 (OMIM) Raised, firm, hairless posterior scalp nodules 1 / 7739
71
 (OMIM) Brittle fingernails (in some patients) 1 / 7739
72
 (OMIM) Small/rudimentary tragus, antitragus and lobule 1 / 7739
73
 (MedDRA:10040966) Skull X-ray normal 1 / 7739
74
 (OMIM) Aplasia cutis congenita of the scalp 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous ...
Clinical Description OMIM Finlay and Marks (1978) described a kindred with 10 persons over 5 generations showing an abnormality of the scalp, ears, and nipples. Although in part the scalp abnormality resembled that of aplasia cutis congenita, the syndrome appeared to ...
Molecular genetics OMIM In a large 4-generation family with scalp-ear-nipple syndrome, originally described by Edwards et al. (1994), and 2 additional unrelated families with the disorder, Marneros et al. (2013) performed exome sequencing and identified 3 heterozygous missense mutations in the ...