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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.
Alazami syndrome is a rare autosomal recessive genetic disorder characterized by short stature, severe mental retardation, speech delay, skeletal deformities, intellectual disability, and distinctive facial features (facial dysmorphisms). Facial features include underdevelopment of the cheekbones, deep-set eyes, broad nose and an enlargement at ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
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 ]
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, [1] is a rare congenital syndrome.It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), [2] [3] growth deficiency, intellectual and developmental disability, and abnormalities ...
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, [1] distinctive facial features, and possible intermittent hyperventilation followed by apnea. [2] Epilepsy (recurrent seizures) often occurs in Pitt-Hopkins. [1]
Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities ...
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]