Symptoma

Robinow-Sorauf Syndrome

The present case represents the seventh instance of report of this condition which for the first time presented as an isolated occurrence rather that a familial presentation. [ijdentistry.com]

The present caseort of this conditionisolated occurrencerather than a familial presentation.2. [docslide.com.br]

Acronym RSS Synonyms Acrocephalosyndactyly Robinow-Sorauf type Craniosynostosis-bifid hallux syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

  • Broad Great Toe

    Definition An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. [uniprot.org]

    UniProtKB/Swiss-Prot : 75 Robinow-Sorauf syndrome: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a [malacards.org]

    Autosomal dominant disease Synopsis flat facies thin, long, pointed nose shallow orbits hypertelorism plagiocephaly (asymmetry of orbits) strabismus broad great toes duplicated great toe distal phalanx Etiology mutations in the TWIST gene (MIM.601622) [humpath.com]

  • Gagging

    Primers used for the PCR amplification of the coding region of the TWIST gene were those described by Howard et al 11 (TW1f: 5′-GAG GCG CCC CGC TCT TCT CC-3′ and TW1r: 5′-AGC TCC TCG TAA GAC TGC GGA C-3′; amplicon 378 bp) and El Ghouzzi et al 11 (TW2f [jmg.bmj.com]

  • Prognathism

    The leptoprosopic flat face with mild maxillary hypoplasia and relative mandibular prognathism was exemplified by a prominent chin [Figure 2]. An increase in gonial angle was evident on profile view. [ijdentistry.com]

    […] in press as: Thakur AR, Naikmasur VG, Ahallux syndrome): The allelic variant of the SaethreeChotzen sy10.1016/j.ijd.2013.11.008Fig. 2 e clinical photograph of face showing leptoprosopicflat face with mild maxillary hypoplasia and relativemandibular prognathism [docslide.com.br]

  • High Arched Palate

    Intra-oral examination revealed high arched palate and generalized enamel hypoplasia [Figure 3] a. Patient was currently undergoing orthodontic treatment for correction of crowding within the arches. [ijdentistry.com]

    arched palate,partial syndactyly of fingers and toes, brachydactyly of toes,valgus deformity of hypertrophied triangular great toes,broad phalanges of the great toes and broad first metatarsals,accessory epiphyses lateral to the interphalangeal joint [docslide.com.br]

  • Duplicated Halluces

    Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. [ijdentistry.com]

    RobinoweSorauf syndrome is characterized by facies similar to those ofSaethreeChotzen syndrome with bifid or partially duplicated halluces. [docslide.com.br]

  • Deformed Limbs

    - - - Limb Brachydactyly - - - - Syndactyly - - - - Clinodactyly - Broad thumbs - Broad great toes CNS Psychomotor Retardation - - - - Table 1: Clinical features of 4 patients in the present pedigree. [omicsonline.org]

  • Ear Deformity

    deformity - - - - Limb Brachydactyly - - - - Syndactyly - - - - Clinodactyly - Broad thumbs - Broad great toes CNS Psychomotor Retardation - - - - Table 1: Clinical features of 4 patients in the present pedigree. [omicsonline.org]

  • Strabismus

    Definition An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. [uniprot.org]

    UniProtKB/Swiss-Prot : 75 Robinow-Sorauf syndrome: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a [malacards.org]

    Autosomal dominant disease Synopsis flat facies thin, long, pointed nose shallow orbits hypertelorism plagiocephaly (asymmetry of orbits) strabismus broad great toes duplicated great toe distal phalanx Etiology mutations in the TWIST gene (MIM.601622) [humpath.com]

  • Antimongoloid Slant

    Naveh and Friedman [7] described a 5-year-old boy and his father presenting with acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional [ijdentistry.com]

  • Psychomotor Retardation

    Retardation - - - - Table 1: Clinical features of 4 patients in the present pedigree. [omicsonline.org]

    retardation, and distinctive facial features,616728 KDM6A127.50.930.86Kabuki syndrome 2300867 KLK4210.90.990.98Amelogenesis imperfecta, type IIA1,204700 KMT2D162.10.990.99Kabuki syndrome 1147920 KREMEN1164.90.960.93No OMIM phenotype147920 LRP2199.910.99Donnai-Barrow [qgenomics.com]

  • Mandibular Prognathism

    The leptoprosopic flat face with mild maxillary hypoplasia and relative mandibular prognathism was exemplified by a prominent chin [Figure 2]. An increase in gonial angle was evident on profile view. [ijdentistry.com]

Craniosynostosis is an etiologically heterogeneous disorder resulting from environmental factors as well as genetics causes, and NGS can be an essential and efficient workup to clarify the genetic etiology. [omicsonline.org]

Treatment - Robinow Sorauf syndrome Not supplied. Resources - Robinow Sorauf syndrome [checkorphan.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Patient was currently undergoing orthodontic treatment for correction of crowding within the arches. Also anterior deep bite with 100% overlap of mandibular teeth was evident [Figure 3] b. [ijdentistry.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Robinow Sorauf syndrome Not supplied. Treatment - Robinow Sorauf syndrome Not supplied. Resources - Robinow Sorauf syndrome [checkorphan.org]

Early intervention programs should be offered to children with developmental delay.In most cases, when treated and monitored from an early age, the prognosis is excellent. source: Orphanet [react-community.org]

Autosomal dominant disease Synopsis flat facies thin, long, pointed nose shallow orbits hypertelorism plagiocephaly (asymmetry of orbits) strabismus broad great toes duplicated great toe distal phalanx Etiology mutations in the TWIST gene (MIM.601622) [humpath.com]

Craniosynostosis is an etiologically heterogeneous disorder resulting from environmental factors as well as genetics causes, and NGS can be an essential and efficient workup to clarify the genetic etiology. [omicsonline.org]

You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message [orpha.net]

Relevant External Links for TWIST1 Genetic Association Database (GAD) TWIST1 Human Genome Epidemiology (HuGE) Navigator TWIST1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TWIST1 No data available for Genatlas for TWIST1 Gene Isolated [genecards.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Prevention - Robinow Sorauf syndrome Not supplied. Diagnosis - Robinow Sorauf syndrome Not supplied. Prognosis - Robinow Sorauf syndrome Not supplied. Treatment - Robinow Sorauf syndrome Not supplied. Resources - Robinow Sorauf syndrome [checkorphan.org]

This early fusion prevents the skull from growing normally and affects the shape of the head and face.Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear [gepedia.com]

Venkata Department More information Prevention Diagnosis Prevention and Management of Positional Skull Deformities in Infants John Persing, MD, Hector James, MD, Jack Swanson, MD, John Kattwinkel, MD, Committee on Practice and Ambulatory Medicine, Section [healthdocbox.com]