Nasopalpebral lipoma - coloboma - telecanthus

General Information (adopted from Orphanet):

Synonyms, Signs: NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME
Number of Symptoms 28
OrphanetNr: 2399
OMIM Id: 167730
ICD-10: Q10.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 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 without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic palpebral coloboma
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000652) Lower eyelid coloboma 9 / 7739
2
 (HPO:0000349) Widow's peak Occasional [Orphanet] 26 / 7739
3
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
7
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
8
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
9
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
10
 (HPO:0000625) Cleft eyelid Very frequent [Orphanet] 31 / 7739
11
 (HPO:0000636) Upper eyelid coloboma 7 / 7739
12
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0001092) Absent lacrimal punctum 6 / 7739
15
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
16
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
17
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
18
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
19
 (HPO:0010748) Ectopic lacrimal punctum 1 / 7739
20
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
21
 (HPO:0001012) Multiple lipomas 43 / 7739
22
 (OMIM) Lipomas of nasal bridge and nasolabial areas 1 / 7739
23
 (OMIM) Lipomas of upper lids 1 / 7739
24
 (HPO:0030001) Lagopthalmos Frequent [Orphanet] 2 / 7739
25
 (OMIM) Coloboma of upper and lower eyelids 1 / 7739
26
 (HPO:0040164) Lipomas of upper eyelids 1 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) Aplasia or malposition of lacrimal puncta 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nasopalpebral lipoma-coloboma syndrome is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).
Clinical Description OMIM Penchaszadeh et al. (1980, 1982) described a Venezuelan family in which 8 persons in 3 generations showed bilateral coloboma of the upper and lower lids at the junction between their middle and inner thirds; prominent circumscribed, rounded deposits ...