Kenny-caffey syndrome, type 2

Preferred Label : Kenny-caffey syndrome, type 2;

Symbol : KCS2;

CISMeF acronym : KCS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia; Kenny syndrome;

Description : The major features of Kenny-Caffey syndrome are proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of anterior fontanel, eye abnormalities, and transient hypocalcemia. Intelligence is normal (Kenny and Linarelli, 1966; Caffey, 1967). Inheritance in most cases is autosomal dominant (Franceschini et al., 1992). See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the family with sequence similarity 111, member A gene (FAM111A, 615292.0001);

Laboratory abnormalities : Hypocalcemia, transient; Hyperphosphatemia, transient;

Prefixed ID : #127000;

Details

Origin ID

127000;

UMLS CUI

C4316787;

Automatic exact mappings (from CISMeF team)
- Kenny-Caffey syndrome, autosomal dominant [ICD-11 More detail]
- Kenny-Caffey syndrome, type 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny Caffey syndrome [MeSH concept]
- Kenny syndrome (disorder) [SNOMED CT concept]
- Kenny-Caffey Syndrome Type 2 [NCIt concept]
- Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome type 2 [DO Concept]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- kenny syndrome [SNOMED Notion]
DO Cross reference
- Kenny-Caffey syndrome type 2 [DO Concept]
Genes related to phenotype
- Family with sequence similarity 111, member a [OMIM gene]
HPO term(s)
- Abnormality of the medullary cavity of the long bones [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Developmental cataract [HPO term]
- High pitched voice [HPO term]
- Hypermetropia [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Hypoparathyroidism [HPO term]
- Increased bone mineral density [HPO term]
- Macrocephaly [HPO term]
- Microphthalmia [HPO term]
- Papilledema [HPO term]
- Prominent forehead [HPO term]
- Retinal calcification [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Thickened cortex of long bones [HPO term]
- Transient hypophosphatemia [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Kenny Caffey syndrome [MeSH concept]
- Kenny syndrome (disorder) [SNOMED CT concept]
- Kenny-Caffey Syndrome [NCIt concept]
- Kenny-Caffey Syndrome Type 2 [NCIt concept]
- Kenny-Caffey syndrome [MedDRA Preferred Term]
- Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome, type 2 [MeSH Supplementary Concept]
- kenny syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Kenny-Caffey Syndrome [NCIt concept]

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