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48 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 .[medbox.iiab.me] 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] They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles,[en.wikipedia.org] hair, sparse eyebrows, sparse eyelashes, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, natal teeth, and beaking of the nose).[accessanesthesiology.mhmedical.com]

    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] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[diseaseinfosearch.org] syndrome, which is the result of considerable phenotypic overlapping of SGS with both Marfan syndrome or Loeys-Dietz syndrome [ 1, 3, 7-9 ].[panafrican-med-journal.com]

    Missing: Large Penis Trident Configuration of Acetabula
  • Klinefelter Syndrome

    , Marfan syndrome Treatment Medical management testosterone replacement may deepen voice, increase muscle growth, and enhance sexual development may be helpful in assisting[step2.medbullets.com] Similar features include hypogonadism, sparse body hair, decreased libido, and infertility.[clinicaladvisor.com] Sexual problems Less than normal amount of pubic, armpit, and facial hair Small, firm testicles Tall height Small penis size Testosterone therapy may be prescribed.[nlm.nih.gov] The differential diagnosis for KS can include fragile X syndrome, Kallmann syndrome, and Marfan syndrome.[en.wikipedia.org] Sexual problems Less than normal amount of pubic, armpit, and facial hair Small, firm testicles Tall height Small penis size Exams and Tests Klinefelter syndrome may first[mountsinai.org]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Stiff Skin Syndrome

    The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular[ncbi.nlm.nih.gov] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com] 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] Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome.[news-medical.net] While Marfan syndrome (MFS1; MIM 154700) results from loss of function mutations in FBN1, SSKS appears to read more Next Generation Sequencing NGS/Del Dup Comprehensive Disease[ctgt.net]

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

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria[ncbi.nlm.nih.gov] Findings include generalized absence of subcutaneous fat, frontal bossing, sparse hair and eyebrows, promi- nent veins on scalp, flat face, shallow orbits, hyper- telorism[documents.tips] 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] MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome.[ab-y-ss.com] […] scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails,[ncbi.nlm.nih.gov]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Lenz-Majewski Syndrome

    Connective Tissue Disorders Marfan Syndrome Beals Syndrome Shprintzen-Goldberg Syndrome Ehlers-Danlos Syndrome Osteogenesis Imperfecta Syndrome, Type I Osteogenesis Imperfecta[geneeskundeboek.nl] hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com] […] characterized by dense, thick bones and symphalangism Symptoms - Lenz Majewski hyperostotic dwarfism * Failure to thrive * Short stature * Severe emaciation * Mental deficiency * Large[checkorphan.org] hair 0008070 Sporadic No previous family history 0003745 Syndactyly Webbed fingers or toes 0001159 Thin skin 0000963[rarediseases.info.nih.gov] Hurler-Scheie Syndrome Hunter Syndrome Sanfilippo Syndrome Morquio Syndrome Maroteaux-Lamy Mucopolysaccharidosis Syndrome (Mild, Moderate, and Severe Types) Mucopolysaccharidosis[geneeskundeboek.nl]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Cutis Laxa, Autosomal Recessive

    This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases[books.google.ro] hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011 ).For a phenotypic description and a discussion of[mendelian.co] "Prevalence, incidence, and age at diagnosis in Marfan Syndrome." Orphanet journal of rare diseases 10.1 (2015): 1. What Is Marfan Syndrome?". NHLBI, NIH.[centogene.com] Additional symptoms include: short stature sparse hair cutis laxa Acquired Cutis Laxa Some people have symptoms, but don’t have the genetic changes associated with cutis laxa[healthline.com] MACS Syndrome MACS Syndrome is macrocephaly (large head), alopecia (sparse hair), cutis laxa, and scoliosis.[cutislaxa.pitt.edu]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Gorlin Psaume Syndrome

    ): Beckwith-Wiedemann syndrome Sotos syndrome Weaver syndrome Q87.4 Marfan's syndrome Q87.40 Marfan's syndrome, unspecified Q87.41 Marfan's syndrome with cardiovascular manifestations[icd10coded.com] hair, alopecia), central nervous system (hydrocephaly, hydranencephaly, porencephaly, partial agenesis of the corpus callosum, hamartoma of the hypothalamus, gray matter[accessanesthesiology.mhmedical.com] 752.69 glottis 748.3 hair 757.4 hand 755.21 heart 746.89 left (complex) (syndrome) 746.7 hymen 752.49 intestine (small) 751.1 large 751.2 iris 743.46 jaw 524.09 kidney(s)[icdlist.com] […] brittle hair • Inheritance: X-linked dominant, lethal prenatally in males Oral-facial-digital syndrome II (aka, Mohr syndrome) • Distinguishing feature: ocular hypertelorism[medlink.com] […] involving limbs Q87.3 Congenital malformation syndromes involving early overgrowth Q87.4 Marfan's syndrome Q87.41 Marfan's syndrome with cardiovascular manifestations Q87.410[icd10data.com]

    Missing: Curled Eyelashes Trident Configuration of Acetabula
  • Hypogonadotropic Hypogonadism

    The differential diagnosis for KS can include fragile X syndrome, Kallmann syndrome, and Marfan syndrome.[en.wikipedia.org] The presence of gynecomastia and other findings of eunuchoid body habitus and sparse body hair are variable.[ncbi.nlm.nih.gov] Sexual problems Less than normal amount of pubic, armpit, and facial hair Small, firm testicles Tall height Small penis size Testosterone therapy may be prescribed.[medlineplus.gov] Genetics of Marfan Syndrome Hypogonadism Klinefelter HF Jr, Reifenstein EC Jr, Albright F.[emedicine.medscape.com] KF Peters, F Kong, M Hanslo and BB Biesecker, Living with Marfan syndrome III. Quality of life and reproductive planning, Clinical Genetics, 62, 2, (110-120), (2002).[doi.org]

    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] […] soft tissue) Syndactyly of fingers Talipes Hypoplastic lungs Tracheal abnormality Agenesis / hypoplasia of kidneys Ureteric abnormalities (reflux / hydronephrosis) Small penis[mediscansystems.org] […] condition characterized by humero-radial synostosis, rhizomelic limb shortening, and a distinctive craniofacial appearance, including high broad forehead and frontal hairline, sparse[cags.org.ae] […] philtrum Low set ears Anteverted / prominent / bat ears Sprengel anomaly Inguinal hernia Scoliosis Limb deficiency - ray Bony restriction of joint anomaly Contractures of large[mediscansystems.org]

    Missing: Curled Eyelashes Trident Configuration of Acetabula

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