User:Airplanegeek89/Oto-palatal-digital syndrome

Oto-Palatal-Digital Syndrome (OPD) is a very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.

The label Oto Palatal Digital simply describes the characteristics of the syndrome. Oto refers to the conductive hearing loss associated with OPD, palatal refers to the cleft soft palate which is common and digital refers to the abnormalities of the fingers and toes of an affected child. There are also other characteristics, some which are common and some that are quite rare or, at least, somewhat unknown to be connected with OPD. For instance, although there are bone abnormalities associated with most cases of OPD, some children also have severe scoliosis, which is not necessarily associated with OPD. Some children with OPD have what is known as Arnold Chiari malformation but for others, this is not the case. Obviously, OPD manifests slightly differently in each child.

Symptoms Note: these symptoms vary between individuals with type 1 and 2. Females are usually milder.
 * Growth deficiency
 * Delayed closure of anterior fontanel
 * Low-set ears
 * Malformed ears
 * Widely spaced eyes
 * Flat nose bridge
 * Small mouth
 * Small lower jaw
 * Cleft palate
 * Mental deficiency in rare cases
 * Small stature
 * Conductive deafness
 * Prominent back of skull
 * Thick skull base
 * Sloping forehead
 * Absent frontal sinuses
 * Absent sphenoid sinuses
 * Underdeveloped facial bone
 * Small nose
 * Overhanging brow
 * Missing teeth
 * Impacted teeth
 * Small tonsils
 * Small trunk
 * Deformed chest
 * Concave chest
 * Failure of neural arch fusion
 * Limited elbow extension
 * Inward bowed tibia
 * Short/broad end of thumb
 * Short/broad end of toe
 * Short nails
 * Fused wrist bones
 * Down slanting space between eyelids
 * Flat face
 * Down turned corners of mouth
 * Secondary ossification center at base of second metatarsal
 * Permanently bent fingers
 * Permanently bent toes
 * Scoliosis
 * Abnormal bone development
 * Abnormal joint development
 * Speech retardation
 * Excess mineralization of fontanels, eyebrow, skull base, and cranio vault
 * Large jaw angle
 * Overlapping fingers
 * Extra fingers and toes
 * Webbed fingers
 * Clinodactyly of second finger
 * Bowed radial bone, ulna bone, femur, and tibula
 * Small fibula
 * Absent fibula
 * Partial dislocation of elbows, wrists and knees
 * Congenital hip dislocation
 * Rocker bottom feet
 * Conductive hearing loss
 * Chest deformity
 * Narrow chest
 * Thin clavicles
 * Wavy clavicles
 * Thin ribs
 * Wavy ribs
 * Flattened vertebral bodies
 * Underdeveloped ilia
 * Widened lumbrosacral canal
 * Broad face
 * Bifid uvula
 * Omphalocele
 * Underdeveloped mid face