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592 Possible Causes for Developmental Delay, Low Hairline, Low Set Ears

  • Noonan Syndrome

    This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality.[] […] posterior hairline Low hairline at back of neck 0002162 Muscular hypotonia Low or weak muscle tone 0001252 Scoliosis Abnormal curving of the spine 0002650 Strabismus Cross-eyed[] . - 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[]

  • Saethre-Chotzen Syndrome

    The case of a 4 year old boy with notable dysmorphic features compatible with Saethre-Chotzen syndrome and severe developmental delay is described.[] The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral[] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[]

  • Pelviscapular Dysplasia

    delay, Visual impairment, Feeding difficulties, Brachycephaly, Short lingual frenulum, Microcephaly, Intellectual disability, Global developmental delay, Downturned corners[] […] posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low hairline, and mild psychomotor retardation.[] ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly[]

  • Cerebro-Facio-Thoracic Dysplasia

    Differential Diagnosis Edit Input criteria using London Dysmorphology Database: Hypertelorism; posteriorly rotated ears; epicanthic folds; developmental delay Output: Braegger[] hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae[] […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] nuchal hairline • Low set ears • Cubitus valgus • Hypertrophic cardiomyopathy Turner’s syndrome • Short stature • Webbed neck • Low nuchal hairline • Low set ears • Cubitus[] Other Mild developmental delay, cryptorchidism AND lymphatic dysplasia Mild developmental delay, cryptorchidism, OR lymphatic dysplasia * Typical face : hypertelorism, epicanthus[] He had dysmorphic triangular facies, hypertelorism, deep set eyes, down slanting palpebral fissures, low set ears, mild prognathia, and deep philtrum, prominent lower lip[]

  • Mandibulofacial Dysostosis

    CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients.[] […] scalp hairline reaching up to the cheekbones palatal abnormalities in two-thirds of affected children ( one-third have a cleft palate and the rest show a fixed or shortened[] 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[]

  • Female with more than three X Chromosomes

    Developmental profiles usually show global developmental delay and intellectual disability; however, receptive language skills are usually less severely affected than expressive[] The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly[] (Redirected from 49, XXXXX ) Pentasomy X Other names 49,XXXXX, penta X, XXXXX syndrome [1] Specialty Medical genetics Symptoms Intellectual disability, short height, low-set[]

  • Turner Syndrome

    Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf[] These include short stature, swelling, a broad chest, a low hairline, low set ears and a webbed neck.[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[]

  • Dubowitz Syndrome

    […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower[] We present a boy with Dubowitz syndrome who does not have developmental delays, providing additional evidence that the phenotype includes normal neurodevelopmental status.[] Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure[]

  • Rubinstein-Taybi Syndrome

    The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces.[] […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low hanging columella 0009765 Low posterior hairline Low hairline at back of neck 0002162[] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[]

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