Simpson-Golabi-Behmel syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: SGBS2
Lethal variant of Simpson-Golabi-Behmel syndrome
Number of Symptoms 52
OrphanetNr: 79022
OMIM Id: 300209
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
X-linked
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Macroglossia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
3
 (HPO:0000474) Thickened nuchal skin fold 10 / 7739
4
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
5
 (HPO:0000996) Facial capillary hemangioma 4 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
9
 (HPO:0000463) Anteverted nares 305 / 7739
10
 (HPO:0000256) Macrocephaly 298 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000280) Coarse facial features 189 / 7739
13
 (HPO:0000445) Wide nose 190 / 7739
14
 (HPO:0002002) Deep philtrum 42 / 7739
15
 (HPO:0000268) Dolichocephaly 144 / 7739
16
 (HPO:0000218) High palate 356 / 7739
17
 (HPO:0000470) Short neck 345 / 7739
18
 (HPO:0000286) Epicanthus 371 / 7739
19
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
20
 (HPO:0000154) Wide mouth 137 / 7739
21
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
22
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
23
 (HPO:0000369) Low-set ears 372 / 7739
24
 (HPO:0010864) Intellectual disability, severe 120 / 7739
25
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
26
 (HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
27
 (HPO:0006610) Wide intermamillary distance 46 / 7739
28
 (HPO:0001762) Talipes equinovarus 309 / 7739
29
 (HPO:0001169) Broad palm 43 / 7739
30
 (HPO:0000954) Single transverse palmar crease 162 / 7739
31
 (HPO:0009381) Short finger 45 / 7739
32
 (HPO:0001182) Tapered finger 93 / 7739
33
 (HPO:0001374) Congenital hip dislocation 51 / 7739
34
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
35
 (HPO:0009466) Radial deviation of finger 101 / 7739
36
 (HPO:0000023) Inguinal hernia 181 / 7739
37
 (HPO:0001792) Small nail 55 / 7739
38
 (HPO:0002090) Pneumonia 59 / 7739
39
 (HPO:0010547) Muscle flaccidity 466 / 7739
40
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
41
 (HPO:0001324) Muscle weakness 859 / 7739
42
 (HPO:0001252) Muscular hypotonia 990 / 7739
43
 (OMIM) Axillary webbing 2 / 7739
44
 (OMIM) Trilobate left lung 1 / 7739
45
 (OMIM) Short, distally tapering fingers 1 / 7739
46
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
47
 (HPO:0030084) Clinodactyly 90 / 7739
48
 (OMIM) Decreased extension of shoulder, elbow, knee, and ankles 1 / 7739
49
 (MedDRA:10058668) Clinodactyly 91 / 7739
50
 (OMIM) Broad and short nose 4 / 7739
51
 (OMIM) Nuchal skin folds 1 / 7739
52
 (OMIM) Shield shaped chest 1 / 7739

Associated genes:

OFD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Terespolsky et al. (1995) reported a family in which 4 maternally related male cousins were born with multiple congenital anomalies. One fetus was voluntarily aborted at 19 weeks' gestation, after multicystic kidneys were detected on ultrasound; the remaining ...
Molecular genetics OMIM In 2 affected members and all female obligate carriers of an affected Polish family, Budny et al. (2006) identified a 4-bp duplication in the CXORF5 gene (300170.0007).