Phenotypes associated with the disease frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome (OMIM:613456):
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: 1/1. (OMIM:613456)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. (OMIM:613456)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Prominent glabella (HP:0002057): Forward protrusion of the glabella. Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. (OMIM:613456)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20451171)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Upper eyelid coloboma (HP:0000636): A short discontinuity of the margin of the upper eyelid. Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: 1/1. (OMIM:613456)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: 3/3. (OMIM:613456)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: 1/1. (OMIM:613456)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 3/3. (PMID:20451171)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 3/3. (PMID:20451171)
- Tessier cleft (HP:0002006): A congenital malformation with a cleft (gap or opening) in the face. Evidence: TAS. (OMIM:613456)