FORSYTHE-WAKELING SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA
FWS
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613606
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000490) Deeply set eye 131 / 7739
3
(HPO:0002007) Frontal bossing 366 / 7739
4
(HPO:0000426) Prominent nasal bridge 121 / 7739
5
(HPO:0000400) Macrotia 108 / 7739
6
(HPO:0000369) Low-set ears 372 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0000750) Delayed speech and language development 197 / 7739
9
(HPO:0002750) Delayed skeletal maturation 250 / 7739
10
(HPO:0000939) Osteoporosis 129 / 7739
11
(HPO:0004325) Decreased body weight 492 / 7739
12
(HPO:0001510) Growth delay 295 / 7739
13
(HPO:0004322) Short stature 1232 / 7739
14
(HPO:0001873) Thrombocytopenia 224 / 7739
15
(OMIM) Intermediate level of cellular sensitivity to UV light 1 / 7739
16
(OMIM) Keratinized, purple, nodular skin lesions (in 2 of 4 patients) 1 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Nephrotic syndrome, steroid-nonresponsive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Forsythe et al. (2009) reported 4 sibs, born of consanguineous Pakistani parents, with microcephaly, postnatal growth retardation, and global developmental delay with poor speech. All had similar dysmorphic features, including frontal bossing, sunken eyes, high nasal bridge, and ...