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 : 76 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]

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]

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]

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]

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]

- - - 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]

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]

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 : 76 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]

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]

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]

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]