Orofaciodigital syndrome type 5

General Information (adopted from Orphanet):

Synonyms, Signs: POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
ORAL-FACIAL-DIGITAL SYNDROME, TYPE V
OFDS V
OFD5
orofaciodigital syndrome, thurston type
thurston syndrome
Oral-facial-digital syndrome type 5
Polydactyly postaxial with median cleft of upper lip
Number of Symptoms 26
OrphanetNr: 2919
OMIM Id: 174300
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Orofaciodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000086) Ectopic kidney 29 / 7739
2
 (HPO:0000085) Horseshoe kidney 39 / 7739
3
 (HPO:0000193) Bifid uvula rare [HPO:skoehler] 66 / 7739
4
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
5
 (HPO:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
6
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0002007) Frontal bossing 366 / 7739
9
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
10
 (HPO:0000180) Lobulated tongue 8 / 7739
11
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
12
 (HPO:0002251) Aganglionic megacolon rare [HPO:skoehler] 78 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
15
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
16
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
17
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
18
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
19
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
20
 (HPO:0100259) Postaxial polydactyly 85 / 7739
21
 (OMIM) Tetralogy of Fallot (rare) Ventricular septal defect (rare) 1 / 7739
22
 (OMIM) Duplicated frenulum (in some patients) 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
25
 (OMIM) Midline lip defect, subtle (in some patients) 1 / 7739
26
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rischbieth (1910) pictured a Hindu patient with postaxial polydactyly and median cleft of the upper lip. His brother was identically affected. Thurston (1909) had earlier reported these brothers. The brothers had median cleft of the vermilion of the ...
Molecular genetics OMIM In an affected individual from each of 2 consanguineous multiplex Arab families with orofaciodigital syndrome mapping to chromosome 1q32.1, Shamseldin et al. (2013) performed exome sequencing and identified homozygosity for different missense variants in the DDX59 gene (V367G, ...