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870 Possible Causes for Epicanthal Folds, Short Stature

  • Turner Syndrome

    […] abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group[ncbi.nlm.nih.gov] Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears,[britannica.com] Other findings characteristic of TS include: temporal narrowing Epicanthal Folds prominent, low-set ears high, narrow palate small mandible low posterior hairline with neck[medicalhomeportal.org]

  • Williams Syndrome

    stature, and specific intellectual disabilities (such as visual spatial problems).[ncbi.nlm.nih.gov] folds (vertical skin folds that cover the inner corners of the eyes Feeding difficulties in infancy, often leading to poor growth Shorter than average height Low body tone[my.clevelandclinic.org] Williams syndrome is a genetic syndrome involving an unusual facies, short stature, developmental delay and heart defects. There is a genetic marker for this disease.[ncbi.nlm.nih.gov]

  • Down Syndrome

    stature, relatively small head, upward slanting eyes usually with epicanthal folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by[merriam-webster.com] The main potential malformations and complications include: short stature, congenital cataract, conductive hearing loss, heart defects (atrio-ventricular canal), digestive[orpha.net] In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridge epicanthic folds abundant neck skin macroglossia simian crease[radiopaedia.org]

  • Noonan Syndrome 1

    Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org] ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] folds, high upper eyelid crease, and some limitation of ocular mobility most commonly of the levator.[disorders.eyes.arizona.edu]

  • LIG4 Syndrome

    Abstract We herein describe a case of a 17-year-old boy with intractable common warts, short stature, microcephaly and slowly-progressing pancytopenia.[scinapse.io] folds and nose changes [ 24 , 27 ].[ncbi.nlm.nih.gov] Other features may include pancytopenia, microcephaly, short stature, developmental delay and characteristic facial features.[invitae.com]

  • Syndromic Moyamoya Disease

    Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism, also known as moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome[malacards.org] folds/AR (most common), XLR/Numerous/Multiple JUBERG-MARSIDI SYNDROME/Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy/XLR[eyewiki.org] Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism (*) WHO-ICD-10 version:2010 Diseases of the circulatory system Cerebrovascular[cags.org.ae]

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[ncbi.nlm.nih.gov] Optic atrophy, downward slanting lid fissures, epicanthal folds, and dacryostenosis have also been reported.[disorders.eyes.arizona.edu] […] and some webbing of the fingers a broad or duplicated toe Less common symptoms include: short stature abnormalities in the bones of the spine hearing loss [3] heart defects[pfond.cmmt.ubc.ca]

  • Watson Syndrome

    Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported.[ncbi.nlm.nih.gov] folds AR (most common), XLR Numerous Multiple JUBERG-MARSIDI SYNDROME Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy XLR[eyewiki.aao.org] In 1967, Watson described 3 families with an autosomal dominant condition characterized by pulmonary valvular stenosis, café-au-lait sports, and short stature.[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature[ncbi.nlm.nih.gov] folds, broad nose with thick alae nasi, septum and anteverted nares; large open mouth with full lips, hypodontia and other dental and bite anomalies, narrow high palate).[genedx.com] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[ncbi.nlm.nih.gov]

  • Native American Myopathy

    stature, and marked susceptibility to malignant hyperthermia.[ncbi.nlm.nih.gov] folds AR (most common), XLR Numerous Multiple JUBERG-MARSIDI SYNDROME Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy XLR[eyewiki.aao.org] Definition A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility[uniprot.org]

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