Disease #01290 (KCS2 (Kenny-Caffey syndrome, type 2), OMIM:127000)

Official abbreviation KCS2
Name Kenny-Caffey syndrome, type 2
OMIM ID 127000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene FAM111A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00453415 FamPat1 PubMed: Bonde 2025 - F yes - - - - - - KCS2 Abnormality of the face, microdontia of primary teeth, high hypermetropia, astigmatism, fully accommodative esotropia, strabismus, short stature, relative macrocephaly, pectus carinatum, thoracic scoliosis, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, slender long bones, delayed skeletal maturation, thin skin, sparse scalp hair, sparse eyebrows, nail dysplasia,high pitched voice, hypernasal speech, pulmonary hypoplasia, anemia, thrombocytosis, reduced circulating growth hormone concentration, decreased response to growth hormone stimulation test FAM111A FAM111A 1 2 Frederike Leonie Harms
00453416 FamPat2 PubMed: Bonde 2025 - M yes - - - - - - KCS2 Abnormality of the face, high hypermetropia, astigmatism, fully accommodative esotropia, short stature, dolichocephaly, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, delayed skeletal maturation, hypermelanotic macule, sparse scalp hair, sparse eyebrows, nail dysplasia, high pitched voice, nasal speech, micropenis, cryptorchidism, anemia, thrombocytosis FAM111A FAM111A 1 1 Frederike Leonie Harms
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