Tessier number 4 facial cleft

General Information (adopted from Orphanet):

Synonyms, Signs: OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS
OBLFC1
Number of Symptoms 11
OrphanetNr: 141258
OMIM Id: 600251
ICD-10: Q18.8
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: Oblique facial cleft
 -Rare developmental defect during embryogenesis
 -Rare maxillo-facial surgical disease

Symptom Information: Sort by abundance 

1
(HPO:0000175) Cleft palate 349 / 7739
2
(HPO:0002006) Facial cleft 25 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000589) Coloboma rare [HPO:skoehler] 47 / 7739
5
(HPO:0000924) Abnormality of the skeletal system 114 / 7739
6
(HPO:0006191) Deep palmar crease rare [HPO:skoehler] 16 / 7739
7
(OMIM) Oromedial-canthal clefting 1 / 7739
8
(OMIM) Ocular hypoplasia (1 patient) 1 / 7739
9
(OMIM) Calcaneovarus (1 patient) 1 / 7739
10
(OMIM) Orofacial clefting, oblique 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal ...
Clinical Description OMIM Dasouki et al. (1988) reported an 8-month-old girl with congenital bilateral oblique facial clefts. On each side of the face, a complete cleft extended from the lateral nostril to the medial canthus, consistent with an oromedial-canthal type of ...
Molecular genetics OMIM In 1 of 23 patients with Tessier 4 oblique facial clefting, Saadi et al. (2011) identified a heterozygous de novo pathogenic missense mutation in the SPECC1L gene (Q415P; 614140.0001). The patient was of Brazilian origin. In vitro functional ...