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1,171 Possible Causes for Hypertelorism, Syndactyly

  • Aarskog Syndrome

    Limbs brachyclinodactyly (80%) broad feet with bulbous toes (75%) simian crease (70%) syndactyly (60%) others: hyperextension of PIP joints & flexion of DIP joints 2.[] Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia.[] Undescended testis [ more ] 0000028 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 External ear malformation 0008572 Finger syndactyly[]

  • Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, syndactyly[] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[] […] of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome.[]

  • Scott Bryant Graham Syndrome

    Related phenotypes are finger syndactyly and intellectual disability[] Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips[] […] diseases Search Search for a rare disease Craniodigital-intellectual disability syndrome Disease definition Craniodigital syndrome - intellectual deficit is characterised by syndactyly[]

  • Apert Syndrome

    Surgical correction of syndactyly of the Apert hand should begin by 6 months and be completed by 3 years of age.[] We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[] Abstract Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.[]

  • Craniofrontonasal Dysplasia

    Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients.[] Nine patients had surgery for hypertelorism. The preferred technique for hypertelorism correction was facial bipartition.[] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[]

  • Cri Du Chat Syndrome

    […] retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly[] […] by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism,[] Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.[]

  • Cenani Syndactylism

    SYNDROME CENANI-LENZ SYNDACTYLY SYNDROME; CLSS Cenani-Lenz syndactyly Cenani syndactyly Cenani-Lenz syndrome Syndactyly, Type 7 edit English Cenani-Lenz syndactyly syndrome[] Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose[] Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short[]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Figure (A) Fifth digit clinodactyly and (B) syndactyly of the toes 2 and 3, highly suggestive of Andersen-Tawil syndrome.[] […] with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism[] Andersen et al reported the case of a 8-years old with short stature, hypertelorism, broad nasal root, and defect of soft and hard palate. We thank Jørgen K.[]

  • Tel Hashomer Camptodactyly Syndrome

    Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development.[] Diseases related with Hypertelorism and Flexion contracture In the following list you will find some of the most common rare diseases related to Hypertelorism and Flexion[] Camptodactyly, syndactyly, and tapered fingers of RCS. Fig. 8. Fathers fifth finger camptodactyly.[]

  • Fraser Syndrome

    Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported.[] We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and[] From Wikidata Jump to navigation Jump to search Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly cryptophthalmos[]

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