Ohdo syndrome, sbbys variant

Preferred Label : Ohdo syndrome, sbbys variant;

Symbol : SBBYSS;

CISMeF acronym : SBBYSS; YSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Say-barber-biesecker-young-simpson syndrome; Young-simpson syndrome; YSS;

Description : Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome (249620), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech (summary by Clayton-Smith et al., 2011). Genitopatellar syndrome (606170) is an allelic disorder with overlapping features.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine acetyltransferase 6B gene (KAT6B, 605880.0001);

Prefixed ID : #603736;

Details

Origin ID

603736;

UMLS CUI

C1863557;

Currated CISMeF NLP mapping
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) [SNOMED CT concept]
- Blepharophimosis-intellectual disability syndrome, SBBYS type [ORDO Disease]
- Young Simpson syndrome [MeSH concept]
- Young-Simpson syndrome [ICD-11 More detail]
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]
- young simpson syndrome [MeSH Supplementary Concept]
DO Cross reference
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]
Genes related to phenotype
- Lysine acetyltransferase 6b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dilated cardiomyopathy [HPO term]
- Epicanthus inversus [HPO term]
- Generalized hypotonia [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent occiput [HPO term]
ORDO concept(s)
- Blepharophimosis-intellectual disability syndrome, SBBYS type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) [SNOMED CT concept]
- Blepharophimosis-intellectual disability syndrome, SBBYS type [ORDO Disease]
- Young Simpson syndrome [MeSH concept]
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]
- young simpson syndrome [MeSH Supplementary Concept]

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