{"Name":"Scalp-ear-nipple syndrome","DiseaseID__c":"GARD:0000159","id":159,"encodedName":"scalp-ear-nipple-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Scalp-ear-nipple syndrome","Xref_IDs__c":"721888002; C1867020; C536623; DOID:0111550; MEDGEN:357183; MONDO:0008404; OMIM:181270; ORPHA:2036","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008404","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.","GARD_Name__c":"Scalp-ear-nipple syndrome","GARD_Synonym__c":"finlay marks syndrome; finlay-marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; scalp, ear, nipple syndrome; sen syndrome; sens","Curated_Disease_Description_Source__c":"MONDO:0008404","Curated_Disease_Description__c":"Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family. Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but that heal during childhood. The external ears of people with scalp-ear-nipple syndrome may be small, cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally normal. Affected individuals also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia). Other features that can occur in this disorder include malformed and brittle fingernails and toenails (nail dystrophy), dental abnormalities including  widely-spaced or missing teeth, fusion of the skin between some of the fingers and toes (cutaneous syndactyly), and kidney defects such as underdevelopment (hypoplasia) of one or both kidneys. Unusual facial features, including narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), a flat bridge of the nose, and nostrils that open to the front rather than downward (anteverted nares), can also occur in this disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2036","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008404","ORPHANET_ID__c":"ORPHA:2036","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cuero cabelludo-oreja-pezón","Spanish_Description_Source__c":"ORPHA:2036","Spanish_Description__c":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por aplasia cutis congénita del cuero cabelludo, anomalías mamarias que van desde hipotelia o atelia hasta amastia, y pabellones auriculares anómalos. Otras características clínicas variables incluyen anomalías ungueales y dentales, sindactilia y camptodactilia de los dedos de las manos y/o los pies, escasez o ausencia de vello sexual secundario, malformaciones renales y dismorfia facial. También se han descrito casos de hipotonía grave y retraso del desarrollo.","Spanish_Disease_Name__c":"síndrome de cuero cabelludo-oreja-pezón","Spanish_GARD_Synonym__c":"síndrome de finlay-markes","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family. Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are firm, raised, hairless nodules that resemble open wounds or ulcers at birth, but that heal during childhood. The external ears of people with scalp-ear-nipple syndrome may be small, cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally normal. Affected individuals also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia). Other features that can occur in this disorder include malformed and brittle fingernails and toenails (nail dystrophy), dental abnormalities including  widely-spaced or missing teeth, fusion of the skin between some of the fingers and toes (cutaneous syndactyly), and kidney defects such as underdevelopment (hypoplasia) of one or both kidneys. Unusual facial features, including narrowed openings of the eyes (narrowed palpebral fissures), an increased distance between the inner corners of the eyes (telecanthus), a flat bridge of the nose, and nostrils that open to the front rather than downward (anteverted nares), can also occur in this disorder.","Curated_Disease_Description_Source__c":"MONDO:0008404","GARD_Synonym__c":"finlay marks syndrome; finlay-marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; scalp, ear, nipple syndrome; sen syndrome; sens","Name":"Scalp-ear-nipple syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2036"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867020"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000159","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2036","Source__c":"C1867020; MONDO:0008404; ORPHA:2036","Xref__c":"ORPHA:2036"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536623","Source__c":"MONDO:0008404","Xref__c":"C536623"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867020","Source__c":"C1867020","Xref__c":"C1867020"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721888002","Source__c":"C1867020; MONDO:0008404","Xref__c":"721888002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357183","Source__c":"C1867020","Xref__c":"MEDGEN:357183"},{"URL__c":"https://www.omim.org/entry/181270","Source__c":"C1867020; MONDO:0008404; ORPHA:2036","Xref__c":"OMIM:181270"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111550","Source__c":"MONDO:0008404","Xref__c":"DOID:0111550"},{"URL__c":"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome","Source__c":"GARD:0000159","Xref__c":"https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008404","Source__c":"GARD:0000159","Xref__c":"MONDO:0008404"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCTD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kctd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000073","HPO_Synonym__c":"Double ureter","HPO_Name__c":"Ureteral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the lower or upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000625","HPO_Synonym__c":"Cleft eyelid; Full thickness defect of the eyelid; Notched eyelid","HPO_Name__c":"Eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the earlobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000385","HPO_Synonym__c":"Hypoplastic earlobes; Hypoplastic lobules; Small earlobe; Small earlobes","HPO_Name__c":"Small earlobe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A duplication of the renal pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005580","HPO_Name__c":"Duplication of renal pelvis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to develop and congenital absence of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100783","HPO_Synonym__c":"Absent breast; Congenital absence of breast; Mammary gland aplasia","HPO_Name__c":"Breast aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009738","HPO_Synonym__c":"Abnormal antehelix; Abnormal anthelix; Abnormal antihelix","HPO_Name__c":"Abnormal antihelix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased posterolateral protrusion of the tragus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011272","HPO_Synonym__c":"Hypoplastic tragus; Hypotrophic tragus; Small tragus","HPO_Name__c":"Underdeveloped tragus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011251","HPO_Synonym__c":"Hypoplastic antitragus; Hypotrophic antitragus; Small antitragus","HPO_Name__c":"Underdeveloped antitragus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006709","HPO_Synonym__c":"Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary","HPO_Name__c":"Aplasia/Hypoplasia of the nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2036","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012330","HPO_Name__c":"Pyelonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Ophthalmology","Dermatology","Obstetrics / Gynecology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["finlay marks syndrome"," finlay-marks syndrome"," hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples"," scalp, ear, nipple syndrome"," sen syndrome"," sens"]}