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59 Possible Causes for Alopecia, Downslanting Palpebral Fissures, 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] Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com]

  • Hallermann-Streiff Syndrome

    The ophthalmologic exam revealed microphthalmia, iris atrophy, blue sclera, microcorneea, aphakia, downslanting palpebral fissures, bilateral upper eyelid entropion, pendular[iovs.arvojournals.org] Characteristic changes in the bones of the skull and the long bones of the arms and legs can usually be seen on x ray.[encyclopedia.com] […] overlying skull sutures, or alopecia areata and hypoplasia, or absence of eyebrows.[biology-online.org]

  • 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] […] retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia[centogene.com] […] syndrome Intellectual Disability LEOPARD syndrome Intellectual Disability Lujan-Fryns syndrome Intellectual Disability Mabry syndrome Intellectual Disability MACS (Macrocefalic alopecia[genomediagnosticsnijmegen.nl]

  • Rothmund Thomson Syndrome

    Infants with BGS may also have a protruding forehead; downslanting eyelid folds (palpebral fissures), small, malformed (dysplastic), low-set ears, and/or other craniofacial[rarediseases.org] On external examination, bilateral, thick, long cilia with extra rows of lashes extending onto the eyelid skin were present (Fig 1).[healio.com] A 20-year-old male developed early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction caused by atrophy and fatty replacement of the pancreas[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    palpebral fissures Radioulnar synostosis Long philtrum Delayed ossification of carpal bones Small epiphyses Cerebral atrophy Upslanted palpebral fissure Sparse scalp hair[mendelian.co] […] eye lashes Oliver-McFarlane All the conditions are rare inherited diseases; the most frequent syndromes are Usher’s syndrome (USH) and Bardet-Biedl syndrome (BBS).[entokey.com] Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia acromesomelic dysplasia Acropectorovertebral Dysplasia Akaba Hayasaka Syndrome alopecia[rgd.mcw.edu]

  • 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] (AADH) syndrome Johnson-McMillin syndrome 147770 Alopecia mental retardation syndrome Perniola syndrome 203650 Alopecia-onchodysplasia-hypohidrosis syndrome Alopecia-onchodysplasia-hypohidrosis-hyperkeratosis-deafness[keratin.com]

  • 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] - anosmia - deafness - hypogonadism [ ] Alopecia antibody deficiency [ ] Alopecia - contractures - dwarfism - intellectual deficit [ ] Alopecia - deafness - hypogonadism[wikicure.wikia.com]

  • Loose Anagen Syndrome

    palpebral fissures Ptosis Ears Large mouth Scalp hairSparse Curly Sparse eyebrows Macrocephaly ( 2 SD) Webbed/short neck Pectus deformity Cryptorchidism NA NA NA NA NA Skin[myslide.es] She has enormous almond-shaped brown eyes with very dark, long lashes.[looseanagensyndrome.blogspot.com] Differential diagnosis of alopecia in children. In: Happle R, Grosshans E (Eds). Pediatric dermatology. Springer, Berlin, 1984, ppS157-66.[keratin.com]

  • 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] […] due to adenosine kinase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperphosphatasia with mental retardation syndrome Hypogonadism, alopecia[qlinics.com]

  • Autosomal-Recessive Robinow Syndrome

    palpebral fissures ; Duplication of the distal phalanx of hand ; Flat face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism[mousephenotype.org] […] philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly[csbg.cnb.csic.es] […] retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia[centogene.com]

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