Craniofacial-deafness-hand syndrome
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
Craniofacial-deafness-hand syndrome is characterised by distinctive facial features, profound hearing loss, and hand abnormalities.
Description
Craniofacial-deafness-hand syndrome is characterised by distinctive facial features, profound hearing loss, and hand abnormalities.
The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and a flattened mid-face with a flat nasal bridge. Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed openings of the eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a small mouth with pursed lips.
People with this condition also have profound hearing loss that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth.
In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may also have permanently bent third, fourth, and fifth fingers (camptodactyly), which can limit finger movement and lead to joint deformities called contractures. Contractures in the wrist can further impair hand movements.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CDHS
Related patient information and medicines
Patient information leaflet
Hand-arm vibration syndrome
Hand-arm vibration syndrome (sometimes abbreviated to HAVS) causes changes in the sensation of the fingers which can lead to permanent numbness of fingers, muscle weakness and, in some cases, bouts of white finger. It is caused by working with vibrating tools. It would be unusual to develop hand-arm vibra... What is hand-arm vibration syndrome..
Patient information leaflet
Turner syndrome
Turner syndrome is a genetic condition that only affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Although there is no cure, there are treatments that can help most girls with Turner syndrome lead relatively normal lives. What.
Patient information leaflet
Compartment syndrome
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, in the body. It can occur in the hand, the forearm, the upper arm, the buttocks, the leg, the foot and the tummy (abdomen). Compartment syndr... It usually occurs in areas of the body known as fascial compartments. The fascial compartment is a special.
Patient information leaflet
Carpal tunnel syndrome
Carpal tunnel syndrome is a set of symptoms thought to be caused by squashing (compression) of the median nerve in the carpal tunnel. What is carpal tunnel syndrome. This syndrome is a set of symptoms thought to be caused by squashing (compression) of the median nerve in the carpal tunnel. In terms of age, carpal tunnel syndrome is more common in:.
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.
/og.png)
Patient information leaflet
Complex regional pain syndrome (CRPS)
Complex regional pain syndrome is a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. However, there is no relationship to the severity of the injury, and in some cases there is no history of any injury. It usually affects one limb, but can later.
Further reading and references
- Craniofacial-deafness-hand syndrome; MedlinePlus, National Library of Medicine.
- Asher JH Jr, Sommer A, Morell R, Friedman TB. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat. 1996;7(1):30-5. doi: 10.1002/(SICI)1098-1004(1996)7:13.0.CO;2-T.
- Birrane G, Soni A, Ladias JA. Structural basis for DNA recognition by the human PAX3 homeodomain. Biochemistry. 2009 Feb 17;48(6):1148-55. doi: 10.1021/bi802052y.
- Sommer A, Bartholomew DW. Craniofacial-deafness-hand syndrome revisited. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501.
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.