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Widely spaced eyes, prominent forehead, flat skull posterior, bulging eyes, low-set ears, flat or concave face, short thumb, and webbed fingers: FGFR2: Isolated unilateral coronal synostosis: Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS: FGFR (any) Baller–Gerold syndrome ...
2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patients in 2007, [1] by 2013 only 21 [citation needed] people have been reported as having the disorder in the medical literature. [2] [3] [4] [5]
The nose may be small, wide, and upturned. The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, [ 1 ] including nutritional, metabolic, hormonal ...
Cranial sutures. A defining characteristic of Crouzon syndrome is craniosynostosis, which results in an abnormal head shape.This is present in combinations of: frontal bossing, trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (unilateral premature closure of lambdoid and coronal sutures ...
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. [3] [4] It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, [5] or it may be used to describe the premature fusion of all sutures. [2] It should be differentiated from Crouzon syndrome.
HDAC8 is an X-linked gene, meaning it is located on the X chromosome. Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS. [8] Evidence of a linkage at chromosome 3q26.3 is mixed. [9] In 2023, it was shown [10] that around 64% of mutations associated with CdLS are linked to NIPBL gene.
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.