Schilbach-Rott syndrome

Was ist Schilbach-Rott syndrome?

It is a rare genetic syndrome that presents with distinct facial features, including facial asymmetry and widely spaced eyes. The syndrome is also characterized by anomalies relating to a cleft palate. The syndrome affects multiple parts of the body- including the musculoskeletal and nervous systems.

This syndrome is also known as:
Blepharofacioskeletal Syndrome; Brss Cleft Palate, Hypotelorism, And Hypospadias Ocular Hypotelorism, Submucosal Cleft Palate, And Hypospadias

Was Genveränderungen verursachen Schilbach-Rott syndrome?

Changes in the PTCH1 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern.

Was sind die wichtigsten symptome von Schilbach-Rott syndrome?

The main symptoms of the syndrome affect the facial features of affected individuals. This includes the eyes. Underdeveloped eyelids, and widely spaced eyes, are a common feature of the syndrome.
Other unique facial features of the syndrome include small ears, a small mouth, a long and prominent nose.
A short stature is also common with the syndrome. As is webbing of the fingers and toes.
In some cases mild developmental delay and intellectual disability are also present in affected individuals.

Possible clinical traits/features:
Clinodactyly, Upslanted palpebral fissure, Phenotypic variability, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes, Single transverse palmar crease, Pectus carinatum, Autosomal dominant inheritance, Submucous cleft hard palate, Thin vermilion border, Pointed chin, Posteriorly rotated ears, Microtia, Micrognathia, Neurological speech impairment, Narrow mouth, Tapered finger, Long face, Long hallux, Long nose, Intellectual disability, mild, 2-3 toe cutaneous syndactyly, Displacement of the urethral meatus, Prominent nose, Clinodactyly of the 5th finger, Epicanthus, Enlarged thorax, Abnormality of the pinna, Cleft palate, Arachnodactyly, Blepharophimosis, Attention deficit hyperactivity disorder, Bifid uvula, Hypoplasia of the zygomatic bone, Short stature, Hypotelorism, Hypospadias, High anterior hairline, Hernia of the abdominal wall, Broad forehead, Cognitive impairment

Wie wird jemand getestet? Schilbach-Rott syndrome?

The initial testing for Schilbach-Rott syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Medizinische Informationen zu Schilbach-Rott syndrome

Syndrome Overview:
Schilbach-Rott syndrome is characterized by hypotelorism, blepharophimosis, epicanthal folds, cleft palate and hypospadias. Mild intellectual disability and 3-4 finger and 2-3 toe syndactyly may also be present. The genetic cause has not yet been identified, but Schilbach-Rott syndrome appears to be inherited in an autosomal dominant manner.

Clinical Description:
Ten individuals from five generations of a German family were described by Schilbach and Rott (1988). They had hypotelorism, blepharophimosis, epicanthic folds and upslanting palpebral fissures. Submucosal cleft palate, hypospadias, and 3-4 finger and 2-3 toe syndactyly may be part of the condition.

Richieri-Costa et al., (1993) reported a similarly affected mother and daughter. They had normal intelligence, but their facial appearance seemed consistent with Schilbach-Rott syndrome. The fingers were long and tapering, but there was no evidence of syndactyly.

Note that Schachter (1954) syndrome manifests with very similar facial features.

Joss et al., (2002) reported a mother and two sons with features of the condition. In the proband, the height was below -2.5 SD and head circumference below -3.33 SD. He needed learning support at a mainstream school. The other affected brother did not have hypospadias or learning difficulties.

A father and son were reported by Becerra-Solano et al., (2007).

A father and his two children reported by Shkalim et al., (2009) had in addition, small crumpled ears, a prominent, large nose with high bridge, and small mouth. The authors were uncertain whether this family was part of the condition discussed here or represented a new syndrome.

The question of whether Schilbach-Rott is the same as “Blepharofacioskeletal syndrome” was again raised by de Carvalho et al., (2008), who thought they were.

Shkalim et. al. (2009) described two siblings and their father with suspected Schilbach-Rott syndrome. Clinical features were mild intellectual disability, hypotelorism, facial asymmetry, low-set crumpled ears, a prominent and long nose, small mouth, and varying degrees of cleft palate .

* 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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