Frontofacionasal dysplasia

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(50.4%)		 6439039
 Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
Gollop TR, Kiota MM, Martins RM, Lucchesi EA, Alvarenga Filho E.
Am J Med Genet. 1984;19(2):301-5.
Encephalocele Absent inner eyelashes Cleft lip
Craniofacial Dysostosis Eye Abnormalities Females Genes, Recessive Homo sapiens Infant Nose
2
(30.8%)		 8725783
 Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: severe frontofacionasal "dysplasia" or newly recognised syndrome?
al-Gazali LI, Dawodu AH, Hamada M, Bakir M, Bakalinova D.
Am J Med Genet. 1996;63(2):346-7.
Telecanthus
Corpus Callosum Craniofacial Abnormalities Homo sapiens Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000636 Upper eyelid coloboma Very frequent (99-80%)
HP:0002006 Facial cleft Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0000456 Bifid nasal tip Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0001088 Brushfield spots Frequent (79-30%)
HP:0001140 Limbal dermoid Frequent (79-30%)
HP:0002084 Encephalocele Frequent (79-30%)
HP:0007036 Hypoplasia of olfactory tract Frequent (79-30%)
HP:0007708 Absent inner eyelashes Frequent (79-30%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Frequent (79-30%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0000482 Microcornea Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0001482 Subcutaneous nodule Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0004132 Dimple on nasal tip Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID