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Otopalatodigital Syndrome Type 1 - MedlinePlus Genetics

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Last Updated: 27 July 2022

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Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 1 is a condition primarily responsible for skeletal abnormalities. It is one of a group of related disorders known as otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. Type 1 of otopalatodigital syndrome type 1 is usually the youngest of the otopalatodigital spectrum disorders. People affected by the tragedy are also affected by hearing loss. Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth. Individuals with this disorder typically have fewer teeth than average, which is less common. People with otopalatodigital syndrome type 1 may be shorter than other members of their family's family. Females with otocutaneous syndrome type 1 have more variable signs and symptoms than males, with females often having fewer signs and symptoms than females, with females having fewer signs and symptoms.

Source link: https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1


Melnick-Needles syndrome

Melnick-Needles syndrome is a condition involving abnormalities in skeletal growth and other health problems. It is a member of a group of otopalatodigital spectrum disorders that also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and terminal osseous dysplasia. Melnick-Needles syndrome is the most common of the otopalatodigital spectrum disorders. One side of the portrait may be noticeably different from the other. People with this disorder are experiencing hearing loss. Some people with this condition may also have hearing loss. People with Melnick-Needles syndrome may have blockage of the ducts between the kidneys and bladder or heart defects, in addition to skeletal abnormalities. Males with Melnick-Needles syndrome have significantly more frequent signs and symptoms than females, and in nearly all cases, men have more frequent signs and symptoms than females, and in nearly all cases die either soon or soon after birth.

Source link: https://medlineplus.gov/genetics/condition/melnick-needles-syndrome


Otopalatodigital syndrome type 2

The Otopalatodigital syndrome type 2 is primarily a disorder involving abnormalities in skeletal growth. In addition, Otopalatodigital syndrome type 2 leads to symptoms in other organs of the body, including the brain and heart. People with otopalatodigital syndrome type 2 have characteristic facial features, including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin. People with otopalatodigital syndrome type 2 usually have short stature, abnormally curved bones in the arms and legs, and other unusual or missing bones. Some people with this disease have an opening in the roof of the mouth or hearing loss. Males with otopalatodigital syndrome type 2 have more frequent signs and symptoms than females.

Source link: https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2


Frontometaphyseal dysplasia

Frontometaphyseal dysplasia (Fontometaphyseal dysplasia) is a disorder that causes abnormalities in skeletal growth and other health conditions. It is a member of a group of otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. Frontometaphyseal dysplasia is distinguished from other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed legs, an abnormal spine curvature, and hand abnormalities. Some affected individuals are worried have reported loss. Individuals with frontometaphyseal dysplasia may have obstructions of the ducts connecting the kidneys and bladder, heart abnormalities, or constrictions in the passages leading from the windpipe to the lungs that can cause breathing difficulties.

Source link: https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia


Terminal osseous dysplasia

Terminal osseous dysplasia is primarily a condition that involves skeletal abnormalities and certain skin changes. Terminal osseous dysplasia is restricted to females; males with terminal osseous dysplasia do not live to birth. The skeletal abnormalities in people with this disorder include permanently bent fingers and toes, underdevelopment, shortening, or fusion of the bones in the wrists and hands. Certain affected individuals have bowed arms or legs or are shorter than their peers, while others have bowed arms or legs or are shorter than their peers, while others have bowed arms or legs or legs. In terminal osseous dysplasia, skin abnormalities are also common. Other signs and symptoms may include extra oral frenulae, which are the thin pieces of tissue in the mouth that connect the lips to the gums; large spaced eyes; and hair loss can occur in people with terminal osseous dysplasia.

Source link: https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions