Otopalatodigital syndrome type 1
Last updated 28 Jul 2021
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the 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).
Description
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the 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).
Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a broad, flat nose. Affected individuals have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; unusually long second toes; and a wide gap between the first and second toes (known as a sandal gap). Affected individuals also have hearing loss.
Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth (a cleft palate). Individuals with this condition often have fewer teeth than normal (hypodontia). They may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family.
Females with otopalatodigital syndrome type 1 often have more variable signs and symptoms compared to affected males, with females typically having fewer signs and symptoms.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Cranioorodigital syndrome
Faciopalatoosseous syndrome
FPO
OPD syndrome, type 1
Oto-palato-digital syndrome, type I
Taybi syndrome
Related patient information and medicines
Patient information leaflet
Ehlers-Danlos syndrome
The Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
Down's syndrome
Down's syndrome (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
Patient information leaflet
Postural tachycardia syndrome
Postural tachycardia syndrome (PoTS) is an abnormal response of your body when you are upright (usually when standing). Your heart rate increases too much after getting up from lying or sitting down. It is caused by a problem with the nervous system which controls the autonomic functions in the body. This part of the nervous system is called the.
Patient information leaflet
Type 1 diabetes
Type 1 diabetes is the type of diabetes that typically develops in children and in young adults. In type 1 diabetes the body stops making insulin and the blood sugar (glucose) level goes very high. Treatment to control the blood glucose level is with insulin injections and a healthy diet. Other treatments aim to reduce the risk of complications..
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Fetal anticonvulsant syndrome
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Further reading and references
- Otopalatodigital syndrome type 1; MedlinePlus, National Library of Medicine.
- Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. Am J Med Genet A. 2005 Jul 15;136(2):190-3. doi: 10.1002/ajmg.a.30792.
- Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov ON, Egic A, Milovanovic Z. Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings. Balkan J Med Genet. 2019 Dec 21;22(2):83-88. doi: 10.2478/bjmg-2019-0024. eCollection 2019 Dec.
- Moutton S, Fergelot P, Naudion S, Cordier MP, Sole G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Deves S, Le Merrer M, David A, Genevieve D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.
- 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/
- Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3.
- Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet. 2007 Jan;15(1):3-9. doi: 10.1038/sj.ejhg.5201654. Epub 2006 Aug 23.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.