Orofaciodigital syndrome type 4

General Information (adopted from Orphanet):

Synonyms, Signs: OFDS IV
OFD SYNDROME, BARAITSER-BURN TYPE
MOHR-MAJEWSKI SYNDROME
OFD SYNDROME WITH TIBIAL DEFECTS
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV
OFD4
baraitser-burn syndrome
Oral-facial-digital syndrome type 4
Number of Symptoms 69
OrphanetNr: 2753
OMIM Id: 258860
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 16 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
Short rib dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000191) Accessory oral frenulum 6 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
8
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
11
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
12
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
13
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0000199) Tongue nodules 5 / 7739
16
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
17
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
18
 (HPO:0000180) Lobulated tongue 8 / 7739
19
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
20
 (HPO:0000218) High palate 356 / 7739
21
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
22
 (HPO:0011802) Hamartoma of tongue 22883145 IBIS 4 / 7739
23
 (HPO:0000453) Choanal atresia Very frequent [Orphanet] 76 / 7739
24
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
25
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
26
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
27
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
28
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
29
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
30
 (HPO:0000369) Low-set ears 372 / 7739
31
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
32
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
33
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
34
 (HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
35
 (HPO:0009381) Short finger 45 / 7739
36
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
37
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
38
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
39
 (HPO:0001770) Toe syndactyly 149 / 7739
40
 (HPO:0005736) Short tibia 19 / 7739
41
 (HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
42
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
43
 (HPO:0000767) Pectus excavatum 244 / 7739
44
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
45
 (HPO:0001159) Syndactyly 140 / 7739
46
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
47
 (HPO:0001829) Foot polydactyly 41 / 7739
48
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
49
 (HPO:0001562) Oligohydramnios Very frequent [Orphanet] 75 / 7739
50
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
51
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
52
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
53
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
54
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
55
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
56
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
57
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
58
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
59
 (HPO:0002059) Cerebral atrophy 171 / 7739
60
 (MedDRA:10058668) Clinodactyly 91 / 7739
61
 (OMIM) Preaxial and/or postaxial polydactyly 1 / 7739
62
 (OMIM) Oral frenula 3 / 7739
63
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
64
 (HPO:0002132) Porencephaly 18 / 7739
65
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
67
 (HPO:0030084) Clinodactyly 90 / 7739
68
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
69
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baraitser (1986) suggested the existence of a fourth type of orofaciodigital syndrome but recognized that considerable overlap of the features of the various forms gives rise to difficulties in precise clinical differentiation. The autosomal recessive mode of inheritance ...
Molecular genetics OMIM In a fetus from a consanguineous Senegalese family that fulfilled diagnostic criteria for OFD4, Thomas et al. (2012) performed genomewide homozygosity mapping and identified 14 regions of homozygosity. Targeted capture strategy combined with next-generation sequencing and filtering yielded ...