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56 Possible Causes for Downslanting Palpebral Fissures, Hirsutism, Long Lashes

  • Rubinstein-Taybi Syndrome

    She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad[ncbi.nlm.nih.gov] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight[rarediseases.info.nih.gov] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] Hum Genet 1982 Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?[pubfacts.com]

  • Progeroid Syndrome Type Petty

    palpebral fissures Downward slanting of the opening between the eyelids 0000494 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth[rarediseases.info.nih.gov] lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end[checkorphan.org] palpebral fissures ; Everted lower lip vermilion ; Failure to thrive ; Feeding difficulties ; Gastroesophageal reflux ; Generalized hypotonia ; Heterotopia ; High, narrow[mousephenotype.org]

  • Lytic Bone Lesion

    palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism[csbg.cnb.csic.es] […] eyebrows and lashes, prominent supraorbital ridges, hyper- telorism, micrognathia, highly arched palate, hick tongue, and stenotic ear canals (Fig. 1).[docslide.net] SFPKS was first described in a 5-year-old female with a distinct facial appearance, proportional short stature, hirsutism, polycystic kidneys, vertebral abnormalities, elongated[nature.com]

  • Cornelia De Lange Syndrome

    palpebral fissures, and downturned corners of the mouth.[aadmd.org] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[ncbi.nlm.nih.gov]

  • Cerebro-Facio-Thoracic Dysplasia

    , syndactyly of toes Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect Hypertelorism, downslanting palpebral fissures, low-set ears[en.wikibooks.org] Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism[biomedsearch.com] Syndrome Carpenter Syndrome Carpenter Syndrome 1 Cat Cry Syndrome Cat Eye Syndrome (Ces) Cataract-Ataxia-Deafness-Retardation Syndrome Cataract-Dental Syndrome Cataract-Hypertrichosis-Mental[neo-genetics.com]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co] […] eye lashes.[jisppd.com] Female with a full beard (Hirsutism).[hairscientists.org]

  • Amaurosis-Hypertrichosis Syndrome

    palpebral fissures Epicanthus Abnormality of the tongue Need help with a diagnosis?[mendelian.co] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org] MalaCards based summary : Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis, is also known as amaurosis congenita cone-rod type with congenital hypertrichosis[malacards.org]

  • Acrootoocular Syndrome

    Clinical description Facial dysmorphism is characterized by small head, downslanting palpebral fissures, broad base of the nose, micrognathia and malformed ears.[orpha.net] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com] palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of[mousephenotype.org]

  • Acrorenal Mandibular Syndrome

    palpebral fissures epicanthal folds Head And Neck Head: scaphocephaly Growth Other: intrauterine growth retardation (iugr) Cardiovascular Vascular: aberrant origin vertebral[malacards.org] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com] Present – – Normal – Present – – Long and flat – Present – Normal NA Present Male – Present Tobias et al. (2001) – – – – – – – – – – – – No Bilateral Present Deep-set eyes, hirsute[docksci.com]

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