Ohdo syndrome, SBBYS Variant (SBBYSS)

Qu'est-ce que Ohdo syndrome, SBBYS Variant (SBBYSS)?

This is a rare disease is a genetic condition that affects multiple parts of the body. Severe intellectual disability is a major syndrome.

To date, there are 19 recorded cases of the syndrome worldwide and it is thought to occur in more than 1 in 1 million live births worldwide.

Syndrome Synonyms:
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Ohdo Blepharophimosis Syndrome Say-barber-biesecker-young-simpson Syndrome Young-simpson Syndrome; Yss

Quelles sont les causes des changements génétiques Ohdo syndrome, SBBYS Variant (SBBYSS)?

Les modifications du gène KAT6 sont responsables du syndrome. La majorité des cas diagnostiqués à ce jour étaient des mutations de novo.

Dans certains cas, un syndrome génétique peut être le résultat d'une mutation de novo et le premier cas d'une famille. Dans ce cas, il s'agit d'une nouvelle mutation génique qui se produit pendant le processus de reproduction.

Quels sont les principaux symptômes de Ohdo syndrome, SBBYS Variant (SBBYSS)?

A major symptom of the syndrome is severe intellectual disability, as well as limited to zero speech development.

Unique physical and facial characteristics of the syndrome include underdeveloped eyelids that cover part of the eye, a mask like, immobile face, a small mouth, small pointed teeth, thin upper lip, a large nasal tip, large toes and very long thumbs. A cleft palate occurs in 1/3 of all individuals with the syndrome.

Missing knee caps, or underdeveloped knee caps are also a major physical feature of the syndrome.

Other health conditions associated with the syndrome include heart defects, in 50% of individuals, feeding issues, low muscle gone and thyroid abnormalities.

Possible clinical traits/features:
Strabismus, Sparse and thin eyebrow, Ptosis, Tented upper lip vermilion, Respiratory failure, Ventricular septal defect, Arachnodactyly, Abnormality of the foot, Cleft palate, Camptodactyly of toe, Wide nasal bridge, Advanced eruption of teeth, Atrial septal defect, Blepharophimosis, Nystagmus, Open mouth, Sensorineural hearing impairment, Widely spaced teeth, Seizure, Proteinuria, Stenosis of the external auditory canal, Thin vermilion border, Scrotal hypoplasia, Autosomal dominant inheritance, Pes planus, Patellar aplasia, Cryptorchidism, Conductive hearing impairment, Epicanthus, Everted lower lip vermilion, Clinodactyly of the 5th finger, Smooth philtrum, Feeding difficulties in infancy, External ear malformation, Atresia of the external auditory canal, Delayed eruption of teeth, Hypermetropia, Full cheeks, Depressed nasal bridge, Cognitive impairment, Visual impairment, Hypothyroidism, Hearing impairment, Short stature, Intellectual disability, Abnormality of dental enamel, Joint laxity, Joint hypermobil

Comment quelqu'un se fait-il tester pour Ohdo syndrome, SBBYS Variant (SBBYSS)?

Les premiers tests de Ohdo syndrome, SBBYS Variant (SBBYSS) peut commencer par un dépistage par analyse faciale, en passant par le FDNA Telehealth plateforme de télégénétique, qui permet d'identifier les marqueurs clés de la syndrome et souligner la nécessité de tests supplémentaires. Une consultation avec un conseiller génétique puis un généticien suivra. 

Sur la base de cette consultation clinique avec un généticien, les différentes options pour les tests génétiques seront partagées et le consentement sera recherché pour des tests supplémentaires.

Informations médicales sur Ohdo syndrome, SBBYS Variant (SBBYSS)

Strabismus, Sparse and thin eyebrow, Ptosis, Tented upper lip vermilion, Respiratory failure, Ventricular septal defect, Arachnodactyly, Abnormality of the foot, Cleft palate, Camptodactyly of toe, Wide nasal bridge, Advanced eruption of teeth, Atrial septal defect, Blepharophimosis, Nystagmus, Open mouth, Sensorineural hearing impairment, Widely spaced teeth, Seizure, Proteinuria, Stenosis of the external auditory canal, Thin vermilion border, Scrotal hypoplasia, Autosomal dominant inheritance, Pes planus, Patellar aplasia, Cryptorchidism, Conductive hearing impairment, Epicanthus, Everted lower lip vermilion, Clinodactyly of the 5th finger, Smooth philtrum, Feeding difficulties in infancy, External ear malformation, Atresia of the external auditory canal, Delayed eruption of teeth, Hypermetropia, Full cheeks, Depressed nasal bridge, Cognitive impairment, Visual impairment, Hypothyroidism, Hearing impairment, Short stature, Intellectual disability, Abnormality of dental enamel, Joint laxity, Joint hypermobil

"Say-Barber-Biesecker-Young-Simpson syndrome (Ohdo syndrome variant) is characterized by dysmorphic features (blepharophimosis, bulbous nasal tip, small mouth), dislocated or hypoplastic patellae, dental abnormalities, various additional congenital abnormalities, and intellectual disability. Some of the affected individuals have an immobile face. This autosomal dominant syndrome is caused by heterozygous mutations in the KAT6B gene.

Young and Simpson (1987) described a female infant with microcephaly, blepharophimosis, small, low-set, posteriorly rotated ears, a bulbous nose, and micrognathia. There was also an ASD, VSD, intellectual disability and hypothyroidism.

Fryns and Moerman (1988) described a similar male case. Apart from the hypoplastic teeth, these infants have some similarities to Ohdo (1986) (qv).

Cavalcanti (1989) reported a 7-month-old male with features of the condition. He also had postaxial polydactyly of the left foot and both hands.

Bonthron et al., (1993) reported a further possible case with an AV-canal defect. The parents were consanguineous.

Moncla et al., (1995) published a 5-month-old boy with a similar combination of features where a terminal deletion of 3p was demonstrated. The authors noted similarities to other cases with 3p25-pter deletions. A patient with a 1p36 terminal deletion has also been reported (Robinson et al., 2008).

Mansuno et al., (1999) reported unrelated male and female cases with features of the condition. In both cases, MRI scans of the brain showed patchy lesions of the subcortical white matter with high signal intensity on T2 weighted imaging.

Kondoh et al., (2000) published a further case. Hypothyroidism was only transient. The thyroid appeared to be anatomically normal. Growth was almost normal. There was also macular degeneration of the fundus, a torticollis, mild talipes equinovarus, and patella dislocation.

Marques-de-Faria et al., (2000) reported a male infant with features overlapping with Ohdo syndrome and Young-Simpson syndrome.

Genitopatellar syndrome is an allelic disorder to SBBYS syndrome.

Yilmaz et al., (2015) reported three patients with typical SBBYS syndrome and the KAT6B c.3147G>A synonymous variant. The mutation induces aberrant splicing through the use of a cryptic exonic splice acceptor site created by the sequence variant. The authors concluded that this mutation represents a mutational hot spot in SBBYS syndrome. Most SBBYS syndrome-causing mutations are clustered in the large exon 18 of KAT6B and almost exclusively lead to predicted protein truncation.

Preiksaitiene et al., (2016) described a female patient with a 5.2 Mb deletion of the 10q22.1q22.3 region including KAT6B. The authors compared the clinical presentation of this patient to four previous patients with similar deletions. The deletion sizes in the five patients varied from 2.6 Mb to 7.9 Mb. The features observed in all the patients included hypotonia and developmental delay, genital anomalies, and characteristic facial dysmorphism. Occasional features included long thumbs/great toes, mask-like face, lacrimal duct anomalies, patellar hypoplasia/agenesis, congenital heart defect, dental anomalies, hearing loss, thyroid anomalies, cleft palate, genital anomalies, and short stature.

Radvanszky et al. (2017) report a girl with multiple congenital anomalies and additional phenotypic features overlapping both SBBYSS and GTPTS. She had a truncating variant in the last KAT6B exon.

Lundsgaard et al., (2017) described a girl with dysmorphic features, atrial septal defect and developmental delay caused by a heterozygous protein-truncating mutation in the KAT6B gene. Clinical features included polyhydramnios during pregnancy, developmental delay, hypotonia, feeding problems, atrial septal defect, chronic otitis media, and hypermetropia. Dysmorphic features were hypertelorism, inverse epicanthal folds, small teeth, blepharophimosis, eversion of the lateral part of the eyelid, arched and laterally sparse eyebrows, long first finger and short fifth finger, and overlapping of the fourth toe over the third toe. Brain MRI revealed hypomyelination and a short corpus callosum.

Yong Rok Kim et al., (2017) described a familial case. The proband was a 3-year-old female patient with developmental delay. She had an immobile face, blepharophimosis, ptosis, a broad and flat nasal bridge, and a low set of large protruding ears. Her father also had a similar face, intellectual disability, and a contracture deformity in the metacarpophalangeal joints. The paternal grandmother and uncle had intellectual disability. The authors identified a missense mutation in the KAT6B gene in affected family members.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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