Ohdo syndrome, Maat-Kievit-Brunner type
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterised by intellectual disability and distinctive facial features. It has only been reported in males.
Descrizione
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterised by intellectual disability and distinctive facial features. It has only been reported in males.
The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioural problems.
Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular.
Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type
BMRS, MKB type
Ohdo syndrome, MKB type
X-linked Ohdo syndrome
Related patient information and medicines
Patient information leaflet
Sindrome compartimentale
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, nel the body. It tends to affect people who are critically ill due to injury to their abdomen, or bleeding inside their abdomen, or who have other abdominal ... This leaflet concentrates on compartment syndrome that can affect the limbs and does not.
Patient information leaflet
Tipi di convulsioni
A seizure is a short episode of symptoms caused by a burst of abnormal electrical activity in the brain. Typically, a seizure lasts from a few seconds to a few minutes. Seizures that last longer than 5 minutes, or that repeatedly happen without a recovery period in-between, are a medical emergency. This is also called status epilepticus. If you.
Patient information leaflet
Sindrome di Ehlers-Danlos
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
Periostite tibiale
The term 'shin splints' refers to pain pain in dello lower leg, specifically along the front of the leg between the knee and the ankle - the area known as the shin. The exact cause of shin splints is not certain but they tend to be as a result of overuse and typically occur in runners. Rest is the most important treatment. Shock-absorbent insoles in.
Patient information leaflet
Sindrome da allergia orale
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) è an allergic condition which causes itching.
Patient information leaflet
Sindrome di Sjögren
Sindrome di Sjögren è an autoimmune disease that causes the glands that produce tears and saliva per stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It can also.
Ulteriori letture e riferimenti
- Ohdo syndrome, Maat-Kievit-Brunner type; MedlinePlus, National Library of Medicine.
- Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618.
- Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270.
- Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.