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80 Possible Causes for Curled Eyelashes, Large Penis, Marfan Syndrome, Sparse Hair, Trident Configuration of Acetabula

  • Wiedemann-Rautenstrauch Syndrome

    "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS" . omim.org . Retrieved 2016-12-06 . External links [ edit ][en.wikipedia.org] During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy[ncbi.nlm.nih.gov] penis Growth Postnatal growth deficiency Hearing Sensorineural hearing loss Intrauterine development Intrauterine growth retardation Joints and Tendons Joint contractures[datagenno.com] A peculiar facial appearance is characterized by a triangular old-looking face, sparse hair, low-set ears and eyes, scanty eyebrows, facial bone hypoplasia, prominent scalp[whonamedit.com] […] hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Long penis Enlarged penis 0000040 Macrocephaly Increased size of skull[rarediseases.info.nih.gov]

    Missing: Curled Eyelashes
  • Goldberg-Shprintzen Syndrome

    Intellectual disability is more likely to occur in those with Shprintzen-Goldberg syndrome, while heart problems are more likely to occur in Marfan syndrome.[stlouischildrens.org] Note hypertelorism and curled eyelashes and clouding of the cornea at the age of 12 years. (Below) Patient V.9 at 8 months and 7 years.[jmg.bmj.com] hair), cleft palate and iris coloboma .[humpath.com] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Ventriculomegaly 0002119[rarediseases.info.nih.gov] Features more commonly described in GSS include cleft palate, ptosis, synophrys, arched eyebrows, curled eyelashes, and ocular coloboma. 11, 12, 14, 16– 22 The underlying[jmg.bmj.com]

    Missing: Large Penis Trident Configuration of Acetabula
  • Progeroid Syndrome Type Petty

    Schwerpunkt First Online: 14 December 2012 Zusammenfassung Schwere kongenitale Lipodystrophie, progeroide Fazies und variable Symptome eines Marfan-Syndroms stellen eine eigene[doi.org] hair, dry skin, constipation, abdominal distension, poor growth, developmental delay, slow deep-tendon reflexes, broad flat nose –Acquired hypothyroidism is most commonly[checkorphan.org] penis None NR Marked NR Marked Large penis Mild Cryptorchidism NA NR Age at the report 8 mos 8 mo 16 y (2) 9 mo 8 mo 4y 18 mo 20 mo 2 mo Died 2.5 y 5.5 y 19 mo Caucasian[docme.ru] […] scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Synophrys Monobrow Unibrow [ more ] 0000664 Thin upper lip vermilion Thin[rarediseases.info.nih.gov] […] hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Long penis Enlarged penis 0000040 Macrocephaly Increased size of skull[rarediseases.info.nih.gov]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan[en.wikipedia.org] hair\eyebrows dry skin short limbs hip\elbow dislocation seizures intellectual disabilities Treat your child but his\hers age not height Adapt to your child's limitations[prezi.com] […] mammillae,unremarkable thorax and abdomen, small penis, tinytestes (0.5 ml), brachy- and clinodactyly of fifth fingers,small hands, unremarkable palmar creases, somewhatshort[myslide.es] syndrome Weill-Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis[ipfs.io] Dermatologic changes includene, sparse hair and thin eyebrows. The skin is dry andin infants mottling is frequently seen on the limbs.[documents.tips]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Sener Syndrome

    Familiær linseluksasjon I noen familier får flere medlemmer løse linser på samme måte som mennesker med Marfans syndrom, men uten å fylle kriteriene for Marfans syndrom.[marfan.no] In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair.[nfed.org] Features noted at birth included neck oedema, a large anterior fontanelle (6 cm 7 cm), a short penis with a large scrotum, and an anteriorly placed anus.[jmg.bmj.com] Kyfoskoliosetypen kan lett forveksles med Marfans syndrom.[tidsskriftet.no] […] til Marfan syndrom: Utvidelse av oppadstigende del eller sprekkdannelse i det innerste laget (disseksjon).[marfan.no]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Progeroid Facial Appearance with Hand Anomalies

    MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome.[ab-y-ss.com] Findings include generalized absence of subcutaneous fat, frontal bossing, sparse hair and eyebrows, promi- nent veins on scalp, flat face, shallow orbits, hyper- telorism[docslide.com.br] The nose is broad, the ears are low set and large. The eyes are widely spaced. The breasts and the penis or clitoris may be slightly hypertrophic.[drmhijazy.com] […] scalp hair Clumsiness Gynecomastia Long eyebrows Distal amyotrophy Horizontal nystagmus Hypogonadotrophic hypogonadism Retinal atrophy Sensory axonal neuropathy Alopecia[mendelian.co] Marfan syndrome : abnormally long and slender limbs, fingers, and toes ( arachnodactyly ) Some causes may include: 2 Causes of Long Fingers : 17q23.1q23.2 Microdeletion Syndrome[familydiagnosis.com]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Humero-Radial Synostosis

    DW (l99l) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. ‎[books.google.de] […] scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exstropia, among others.[cags.org.ae] […] clitoris, small penis or undescended testes, are seen in less than 50% of the patients.[jpgmonline.com] […] the minimal diagnostic criteria.(8) Varying urogenital anomalies including ectopic kidneys, ureteric obstruction, hypoplastic uterus, hypoplastic or fused labia majora, large[bioline.org.br] […] soft tissue) Syndactyly of fingers Talipes Hypoplastic lungs Tracheal abnormality Agenesis / hypoplasia of kidneys Ureteric abnormalities (reflux / hydronephrosis) Small penis[mediscansystems.org]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Menkes Disease

    Differential diagnosis Differential diagnosis includes Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa, mitochondrial disorders, osteogenesis imperfecta (see these terms[orpha.net] In one of them the disorder was associated with trichiasis, a misdirection of some eyelashes towards the cornea.[actasdermo.org] The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation.[casesjournal.biomedcentral.com] Signs and symptoms [ edit ] A baby with the characteristic features – fuzzy, sparse hair; fair complexion; chubby cheeks; and irritability Affected infants may be born prematurely[en.wikipedia.org] […] scalp hair, and profound mental retardation characteristic of Menkes disease.[ncbi.nlm.nih.gov]

    Missing: Large Penis Trident Configuration of Acetabula
  • Lateral Meningocele Syndrome

    The main differential diagnosis is that of other connective tissue disorders associated with meningoceles, including: neurofibromatosis type 1 Marfan syndrome Promoted articles[radiopaedia.org] Dysmorphic features include left posterior plagiocephaly and tall cranial vault, sparse hair, hypoplastic supraorbital ridges, epicanthus, hypertelorism, ptosis, downslanted[ashg.org] The upper middle inci-sors appeared large and micrognathia was present.The neck was short and webbed.[documents.tips] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. 22q11.2 Deletion Syndrome May 12, 2018 by Peter Ciszewski[checkrare.com] Singh KK, Rommel K, Mishra A, Karck M, Haverich A, et al. (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.[journals.plos.org]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Woolly Hair

    , Marchiafava-Bignami-Syndrom, Marcus-Gunn-Syndrom, Marfan-Syndrom, Marie-Foix-Alajouanine- Syndrom, Marie-Sée-Syndrom, Marinesco-Sjögren-Syndrom, Maroteaux-Lamy-Syndrom,[yumpu.com] In few cases, the condition is associated with tightly curled woolly scalp hair.[ncbi.nlm.nih.gov] People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse.[ghr.nlm.nih.gov] Syndrom Mallory-Weiss Syndrom Mammorenales Syndrom Manisches Syndrom Marfan-Syndrom Marinesco-Sjögren-Syndrom Maroteaux-Lamy-Syndrom Martin-Bell-Syndrom Meckel-Gruber-Syndrom[krankheiten.de] Autosomal recessive hypotrichosis/woolly hair is a rare genetic hair loss disorder characterized by sparse scalp hair/woolly hair, sparse to absent eyebrows and eyelashes,[ncbi.nlm.nih.gov]

    Missing: Large Penis Trident Configuration of Acetabula

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