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479 Possible Causes for Dysmorphic Face, Epicanthal Folds

  • Williams Syndrome

    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] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org] Craniofacial dysmorphism is typically present. For instance, a prominent forehead and a flat face are usually seen and the nose is small and nostrils anteverted.[jle.com] Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds and a flat[popflock.com]

  • Mohr Syndrome

    Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on both hands and feet, doubling[ncbi.nlm.nih.gov] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] There were some unusual findings in the facies like presence of epicanthic folds and low set ears (figure 1).[ijcasereportsandimages.com]

  • Noonan Syndrome 1

    ., 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] The characteristic facial features include hypertelorism, epicanthal folds, down-slanting palpebral fissures, expressive triangular-shaped eyebrows, and ptosis.[touchendocrinology.com]

  • Turner Syndrome

    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] Epicanthal folds could be seen.[symptoma.com]

  • Smith Lemli Opitz Syndrome

    folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] Upper eyelid drooping (ptosis), typical skin fold at the upper eyelid that covers the inner angle of the eye (epicanthic folds).[syndromespedia.com]

  • Down Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy[merriam-webster.com] In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridge epicanthic folds abundant neck skin macroglossia simian crease[radiopaedia.org] The inner corner of the eyes may have a rounded fold of skin (epicanthal fold). The hands are short and broad with short fingers, and may have a single palmar crease.[emedicinehealth.com]

  • Trisomy 9

    The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips[ncbi.nlm.nih.gov] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov] Craniofacial - Microcephaly, flat nasal bridge, epicanthic folds, micrognathia, low set ears and cleft palate. Bilateral cystic renal dysplasia, atretic ureters.[fetalultrasound.com]

  • Robinow Syndrome

    Epicanthal folds, a common finding in Down syndrome, may be less obvious in the neonate than later in life.[rrnursingschool.biz] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[ncbi.nlm.nih.gov] Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital[uniprot.org]

  • SHORT Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy[merriam-webster.com] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov] Fig. 1 Dysmorphic features (triangular-shaped face with prominent forehead and deeply-set eyes) Fig. 2 Dysmorphic features and body silhouette - front view Fig. 3 Lipodystrophy[ijponline.biomedcentral.com]

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