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Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1]
The child had significant malformations; Brachmann identified the most conspicuous anomaly as “Monodactyl due to ulnar defect, with Flight skin formation in the elbows.” In addition, the child was very young and showed excessive hair growth. His facial features were also abnormal, especially the widening of the forehead.
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome (KS) affects roughly one in ...
Facial features of children with Smith–Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set, close together, and slanted upwards. Eyebrows are heavy with lateral extension.
Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic condition. [1] It is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected. [2] This syndrome typically presents itself in infants, specifically newborns. [3]
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...