Blepharophimosis-intellectual deficit syndrome, SBBYS type

General Information (adopted from Orphanet):

Synonyms, Signs: YOUNG-SIMPSON SYNDROME
SBBYSS
YSS
Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
say-barber-biesecker-young-simpson syndrome
Number of Symptoms 32
OrphanetNr: 3047
OMIM Id: 603736
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Blepharophimosis-intellectual deficit syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Syndromic hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
3
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
5
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
6
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
7
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
8
 (HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
9
 (HPO:0100649) Neoplasm of the oral cavity Occasional [Orphanet] 20 / 7739
10
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
11
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
12
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
13
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
16
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
17
 (HPO:0005990) Thyroid hypoplasia Frequent [Orphanet] 21 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
19
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
20
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
21
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
22
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
25
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
26
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
27
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
28
 (HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] 27 / 7739
29
 (HPO:0003220) Abnormality of chromosome stability Frequent [Orphanet] 98 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
31
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
32
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Young and Simpson (1987) described a girl with congenital heart defects, hypothyroidism, mental retardation, and facial dysmorphism, including blepharophimosis. Four additional patients with similar symptoms were reported (Fryns and Moerman, 1988; Cavalcanti, 1989; Bonthron et al., 1993; Nakamura ...
Molecular genetics OMIM Clayton-Smith et al. (2011) studied a cohort of 19 patients with a presumed diagnosis of SBBYSS, in which 12 patients were considered to have typical features of the syndrome, 2 had suggestive but milder features, and 5 were ...