Nasopalpebral lipoma-coloboma syndrome

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.5%)		 21836344
(3159320)
 Nasopalpebral lipoma coloboma syndrome.
Babu NS, Raviprakash D, Kumar R.
Indian J Ophthalmol. 2011;59(5):379-80.
Eyelid coloboma Lipoma
Biopsy Differential Diagnosis Eyelid Neoplasms Females Follow-Up Studies Homo sapiens Lipoma Ophthalmologic Surgical Procedures X-Ray Computed Tomography
2
(39.8%)		 23636874
 Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.
Chacon-Camacho OF, Lopez-Martinez MS, Vazquez J, Nava-Castaneda A, Martin-Biasotti F, Pina-Aguilar RE, Iniguez-Soto M, Acosta-Garcia J, Zenteno JC.
Am J Med Genet A. 2013;161A(6):1470-4.
Telecanthus Lipoma
rs879255650
Eyelid Neoplasms Females Hamartoma Homo sapiens Infant Lipoma Smooth Muscle Tumor
2
(39.8%)		 1756608
 Nasopalpebral lipoma-coloboma syndrome.
Akarsu AN, Sayli BS.
Clin Genet. 1991;40(5):342-4.
Telecanthus Lipoma
Child, Preschool Homo sapiens Lipoma Male Nose Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000589 Coloboma Very frequent (99-80%)
HP:0001012 Multiple lipomas Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000327 Hypoplasia of the maxilla Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000349 Widow's peak Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000437 Depressed nasal tip Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000499 Abnormal eyelash morphology Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000577 Exotropia Frequent (79-30%)
HP:0002788 Recurrent upper respiratory tract infections Frequent (79-30%)
HP:0007820 Lacrimal punctal atresia Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0008850 Severe postnatal growth retardation Frequent (79-30%)
HP:0009926 Epiphora Frequent (79-30%)
HP:0030670 Hamartoma of the orbital region Frequent (79-30%)
HP:0030953 Conjunctival hyperemia Frequent (79-30%)
HP:0031111 Cutaneous hamartoma Frequent (79-30%)
HP:0040164 Lipomas of eyelids Frequent (79-30%)
HP:0045075 Sparse eyebrow Frequent (79-30%)
HP:0000378 Cupped ear Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0007633 Bilateral microphthalmos Occasional (29-5%)
HP:3000022 Abnormality of cartilage of external ear Occasional (29-5%)
HP:0002011 Morphological abnormality of the central nervous system Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000625 Eyelid coloboma 1
HP:0012032 Lipoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID