Lethal polymalformative syndrome, Boissel type

General Information (adopted from Orphanet):

Synonyms, Signs: GDFD
Number of Symptoms 40
OrphanetNr: 210144
OMIM Id: 612938
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000158) Macroglossia 119 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
7
 (HPO:0010808) Protruding tongue 28 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0002678) Skull asymmetry 4 / 7739
10
 (HPO:0000278) Retrognathia 100 / 7739
11
 (HPO:0000193) Bifid uvula 66 / 7739
12
 (HPO:0000280) Coarse facial features 189 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
14
 (HPO:0001276) Hypertonia 317 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001250) Seizures 1245 / 7739
17
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
18
 (HPO:0001537) Umbilical hernia 206 / 7739
19
 (HPO:0001508) Failure to thrive 454 / 7739
20
 (HPO:0001513) Obesity 172 / 7739
21
 (HPO:0001525) Severe failure to thrive 13 / 7739
22
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
23
 (HPO:0001792) Small nail 55 / 7739
24
 (HPO:0000965) Cutis marmorata 46 / 7739
25
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
26
 (HPO:0001629) Ventricular septal defect 316 / 7739
27
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0001339) Lissencephaly 30 / 7739
30
 (OMIM) Genital ambiguity 1 / 7739
31
 (OMIM) Thin vermilion 3 / 7739
32
 (OMIM) Hypertrophy of the labia 1 / 7739
33
 (OMIM) Developmental delay, severe 13 / 7739
34
 (OMIM) Toenail hypoplasia 1 / 7739
35
 (OMIM) Optic disc abnormalities 1 / 7739
36
 (OMIM) Prominent alveolar ridge 1 / 7739
37
 (HPO:0000238) Hydrocephalus 278 / 7739
38
 (MedDRA:10072883) Brachydactyly 153 / 7739
39
 (OMIM) Atrioventricular defect 1 / 7739
40
 (OMIM) Drumstick fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Boissel et al. (2009) reported a consanguineous Palestinian Arab family in which 9 individuals had a severe multiple congenital anomaly syndrome with death by age 3 years. Clinical features included coarse face with anteverted nostrils, thin vermilion, prominent ...
Molecular genetics OMIM By genomewide linkage analysis, followed by candidate gene sequencing, in a consanguineous Palestinian family with growth retardation, multiple congenital anomalies, and early death, Boissel et al. (2009) identified a homozygous mutation in the FTO gene (R316Q; 610966.0001).