Terminal osseous dysplasia
Zuletzt aktualisiert 24 Mar 2023
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Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.
Beschreibung
Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.
Terminal osseous dysplasia occurs only in females; males with the condition do not survive to birth. The skeletal abnormalities in people with this condition typically include permanently bent fingers and toes (camptodactyly) and underdevelopment (hypoplasia), shortening, or fusion of the bones in the wrists and hands. The outer layer of bone (cortex) in other parts of the skeleton may be abnormal, and some affected individuals have bowed arms or legs or are shorter than their peers.
Skin abnormalities are also common in terminal osseous dysplasia. Many individuals with the condition have dark patches of skin on their face, often near the temples. In addition, affected infants commonly develop noncancerous (benign) tumours called fibromas on their fingers or toes. The tumours may reappear after being removed, but they tend to go away and stop reoccurring in childhood.
Other signs and symptoms can occur in people with terminal osseous dysplasia, including extra oral frenulae, which are the thin pieces of tissue in the mouth that connect the inside of the lips to the gums; widely spaced eyes; and hair loss. Some people with this condition have an abnormality in the muscular wall (septum) that separates the right and left sides of the heart (cardiac septal defect).
Related genes
Other names
DCD
Digitocutaneous dysplasia
Terminal osseous dysplasia and pigmentary defect syndrome
Terminal osseous dysplasia and pigmentary defects
Terminal osseous dysplasia with pigmentary defects
Terminal osseous dysplasia-pigmentary defects syndrome
TODPD
Related patient information and medicines
Patient information leaflet
Hüftprobleme
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of Hüfte problems in children Developmental dysplasia of the Hüfte (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Eingeschränktes Wachstum
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
Patient information leaflet
Luxation
A dislocation ist ein Verletzungen in which the Knochen in a joint are forced apart and out of their usual positions. To dislocate the bones of a large joint usually needs considerable force (although t... Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments around the new.
Patient information leaflet
Barrett-Ösophagus
However, you may be advised to... If precancerous changes develop then treatment to remove or destroy the precancerous cells may be advised. What is Barrett's oesophagus. Barrett's oesophagus is a condition which affects the lower gullet (oesophagus). It is named after the doctor who first described it. In Barrett's oesophagus, the cells lining.
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Frühgeborene
Premature babies are born too early, before they have fully developed in the womb. They often need extra or intensive medical care and support while their organs continue to develop to a point where they can survive without specialist help. Most premature babies go on to have normal h... Pneumothorax. It is treated by draining out the air with a.
Patient information leaflet
Gelenkschmerzen
Gelenkschmerzen may also be caused by different structures in or around the joint. The underlying cause may therefore be a problem with: The lining of the joint. Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient synovitis) which usually resolves within a few w... See the separate leaflets.
Weiterführende Lektüre und Referenzen
- Terminal osseous dysplasia; MedlinePlus, National Library of Medicine.
- Azakli H, Akkaya AD, Aygun MS, Demirkesen C, Eraslan S, Kayserili H. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. Am J Med Genet A. 2019 Jan;179(1):123-129. doi: 10.1002/ajmg.a.60686. Epub 2018 Dec 18.
- Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul;152A(7):1825-31. doi: 10.1002/ajmg.a.33470.
- Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug 8.
- Li Z, Xie Y, Xiao Q, Wang L. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review. J Dermatol. 2020 Mar;47(3):295-299. doi: 10.1111/1346-8138.15209. Epub 2020 Jan 9.
- Robertson S, Wade E. FLNA-Related Otopalatodigital Spectrum Disorders. 2005 Nov 30 [updated 2025 Jun 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1393/
- Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008.
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24 Mar 2023 | Neueste Version
1 Nov 2020 | Ursprünglich veröffentlicht
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