Scalp-ear-nipple syndrome

A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 22639454
 Finlay-Marks syndrome: report of two siblings and review of literature.
Naik P, Kini P, Chopra D, Gupta Y.
Am J Med Genet A. 2012;158A(7):1696-701.
Renal insufficiency Cutaneous syndactyly
Child Child, Preschool External Ear Fatal Outcome Females Homo sapiens Hypospadias Infant Male Nipples Phenotype Sibling
1
(31.0%)		 17351354
 Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.
Al-Gazali L, Nath R, Iram D, Al Malik H.
Clin Dysmorphol. 2007;16(2):105-7.
Dry skin Syndactyly
Developmental Disabilities Females Homo sapiens Infant Male Syndrome
1
(31.0%)		 15712197
 Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.
Baris H, Tan WH, Kimonis VE.
Am J Med Genet A. 2005;134A(2):220-2.
Syndactyly
Adult Females Fingers Homo sapiens Nipples Syndactyly Syndrome Toes
1
(31.0%)		 8042668
 Scalp-ear-nipple syndrome: additional manifestations.
Edwards MJ, McDonald D, Moore P, Rae J.
Am J Med Genet. 1994;50(3):247-50.
Syndactyly
rs587776998
Adult Breast Ectodermal Dysplasia Females Homo sapiens Male Nipples Pigmentation Disorders Syndactyly Syndrome
5
(4.0%)		 9383029
 Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.
Plessis G, Le Treust M, Le Merrer M.
Clin Genet. 1997;52(4):231-4.
Renal insufficiency
rs587777002
Adult Face Females Hair Homo sapiens Kidney Nipples Syndrome Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000385 Small earlobe Very frequent (99-80%)
HP:0000951 Abnormality of the skin Very frequent (99-80%)
HP:0001965 Abnormality of the scalp Very frequent (99-80%)
HP:0006709 Aplasia/Hypoplasia of the nipples Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0011251 Underdeveloped antitragus Very frequent (99-80%)
HP:0011272 Underdeveloped tragus Very frequent (99-80%)
HP:0100783 Breast aplasia Very frequent (99-80%)
HP:0000010 Recurrent urinary tract infections Frequent (79-30%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000822 Hypertension Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0100540 Palpebral edema Frequent (79-30%)
HP:0100651 Type I diabetes mellitus Frequent (79-30%)
HP:0000073 Ureteral duplication Occasional (29-5%)
HP:0000077 Abnormality of the kidney Occasional (29-5%)
HP:0000625 Eyelid coloboma Occasional (29-5%)
HP:0000966 Hypohidrosis Occasional (29-5%)
HP:0005580 Duplication of renal pelvis Occasional (29-5%)
HP:0012330 Pyelonephritis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000958 Dry skin 1
HP:0001159 Syndactyly 1
HP:0012385 Camptodactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KCTD1 potassium channel tetramerization domain containing 1 284252