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950 Possible Causes for Hypertelorism, Low Set Ears

  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[nlm.nih.gov] Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital[icd9data.com]

  • Down Syndrome

    […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com]

  • Noonan Syndrome

    Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[medicowesome.com] Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.[ncbi.nlm.nih.gov]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    […] with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism[orpha.net] Unlike those with other forms of Long QT syndrome, those with Andersen–Tawil syndrome often have characteristic physical features including low-set ears and a small lower[en.wikipedia.org] QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set[orpha.net]

  • Saethre-Chotzen Syndrome

    Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] The patient described in this report displayed craniofacial features classic for Saethre–Chotzen syndrome, including craniosynostosis, low-set ears, small pinna with prominent[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation.[ncbi.nlm.nih.gov] ears.[ncbi.nlm.nih.gov] Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities[ncbi.nlm.nih.gov]

  • Lateral Meningocele Syndrome

    Facial features found in this syndrome include dolichocephaly hypertelorism ptosis microretrognathia high arched palate long flat philtrum low set earsNon facial features[en.wikipedia.org] Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears.[malacards.org] Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    […] of cutaneous webs (pterygia) across joints presence of a cystic hygroma 4-5 presence of hydrops fetalis craniofacial micrognathia cleft palate 4-5 flattened nasal bridge hypertelorism[radiopaedia.org] ( arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set[anvita.info] Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs.[fetalultrasound.com]

  • Pelviscapular Dysplasia

    UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism[malacards.org] ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly[familydiagnosis.com] ), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism[medical-dictionary.thefreedictionary.com]

  • Patau Syndrome

    The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas[ncbi.nlm.nih.gov] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small[webmd.com]

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