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68 Possible Causes for Large Penis, Skeletal Dysplasia

  • Donohue Syndrome

    Affected females may have cystic ovaries and an abnormally enlarged clitoris/ breasts, while males may be afflicted with an abnormally large penis.[symptoma.com] Figure 4: Thin and emaciated extremity with protuberant abdomen and large penis Click here to view Leprechaunism was first described by Donohue (1948) [3] and since then it[e-ijd.org] Other abnormalities that have been observed in infants with leprechaunism include recurrent infections, abnormalities of the intellect and unusually large hands and feet.[symptoma.com]

  • Robinow Syndrome

    […] philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macroglossia Abnormally large tongue Increased size of tongue Large[rarediseases.info.nih.gov] Rob·i·now syn·drome ( rob'i-now ), [MIM*180700] a skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide[medical-dictionary.thefreedictionary.com] Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns.[ncbi.nlm.nih.gov]

  • Three M Syndrome

    All have long triangular faces with pointed chins, but other features may be present such as thick lips, large ears, fleshy upturned nose, or prominent mouth.[wiki.ggc.edu] Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features.[ncbi.nlm.nih.gov] Antenatally, he was suspected to have skeletal dysplasia.[edmcasereports.com]

  • Noonan Syndrome

    […] head, triangular-shaped face, broad forehead Mild mental retardation Short stature (50% of the individuals have this feature) Small penis, undescended testicles (the testes[dovemed.com] Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[doi.org] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org]

  • Wiedemann-Rautenstrauch Syndrome

    penis Growth Postnatal growth deficiency Hearing Sensorineural hearing loss Intrauterine development Intrauterine growth retardation Joints and Tendons Joint contractures[datagenno.com] Cerebro-Costo-Mandibular syndrome Cerebellar Aplasia/Hypoplasia/Degeneration Cerebral Atrophy Cerebral Palsy Cerebro-oculo-facial-skeletal syndrome CHARGE Association Chediak[de.slideshare.net] [11], and congenital hip dysplasia [16] were not reported in our patient.[ijp.mums.ac.ir]

  • Lenz-Majewski Syndrome

    […] characterized by dense, thick bones and symphalangism Symptoms - Lenz Majewski hyperostotic dwarfism * Failure to thrive * Short stature * Severe emaciation * Mental deficiency * Large[checkorphan.org] Lachman RS (1997) The cervical spine in the skeletal dysplasias and associated disorders.[link.springer.com] The short-rib polydactyly syndromes comprise a group of rare, generally lethal skeletal dysplasias.[mhmedical.com]

  • Femoral Hypoplasia

    It can be seen as an isolated defect or associated with features consistent with skeletal dysplasia [ 12 ].[radiologykey.com] Hypoplastic acetabulae, large obturator foraminae. Spine. Dysplastic sacrum. Missing and/or hemivertebrae. Scoliosis. Genitourinary. Cryptorchidism.[fetalultrasound.com] Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia. American Journal of Medical Genetics, 117A , 203–206.[link.springer.com]

  • Klinefelter Syndrome

    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] BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births.[ncbi.nlm.nih.gov] 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]

  • Autosomal-Recessive Robinow Syndrome

    Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and[ncbi.nlm.nih.gov] […] philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macroglossia Abnormally large tongue Increased size of tongue Large[rarediseases.info.nih.gov] (Limb Malformations & Skeletal Dysplasia Clinic, MSU, NRC). Date 2008 Source Samia A Temtamy, Mona S Aglan. Brachydactyly.[commons.wikimedia.org]

  • Kenny-Caffey Syndrome Type 1

    During the course of his fellowship, he initiated positional cloning studies of an autosomal recessive skeletal dysplasia, the Kenny-Caffey Syndrome (KCS), using eight consanguineous[grantome.com] The boy had pinoscrotal hypoplasia and short penis which was later surgically corrected, while the girls had normal genitalia. All other systems were normal.[omjournal.org] Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular[accessanesthesiology.mhmedical.com]

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