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53 Possible Causes for Dysmorphic Face, Large Penis

  • Donohue Syndrome

    Affected females may have cystic ovaries and an abnormally enlarged clitoris/ breasts, while males may be afflicted with an abnormally large penis.[] At birth, the infant was noted to have dysmorphic features, such as a small face with prominent eyes and thick lips, large, pointed ears, depressed nasal bridge, wide nostrils[] 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[]

  • 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.[] 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[] Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) Infertility[]

  • Wiedemann-Rautenstrauch Syndrome

    penis Growth Postnatal growth deficiency Hearing Sensorineural hearing loss Intrauterine development Intrauterine growth retardation Joints and Tendons Joint contractures[] (triangular aged face, prominent eyes and scalp veins).[] Cardiovascular Cardiovascular abnormalities Ventricular dilatation with cortical atrophy Endocrine and/or Exocrine Hyperprolactinemia Hypothyroidism Genitourinary Hypoplastic prepuce Large[]

  • 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.[] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[] Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface[]

  • 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[] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[]

  • 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[] […] philtrum (top lip line), high arched palate Excess skin in the back of the neck, low hairline at the nape of the neck High hairline at the front of the head, curly hair Large[]

  • Klinefelter's Syndrome with XY/XXY Mosaic

    These include a very small penis (micropenis), a very large clitoris (clitoromegaly), the absence of either a clitoris or penis (aphallia) or hypospadias.[] 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[] The genital tubercle is larger than typical clitorises and may be as a large as a penis and/or the labia may resemble a scrotum and sometimes even seal the vagina.[]

  • Hypogonadism

    Impaired development and growth of body hair, a male voice, muscle mass, the penis, and testicles during puberty.[] On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined.[] Gynecomastia, abnormally large breast tissue development in men, is another possibility that develops with time.[]

  • Autistic Disorder

    […] the penis), undescended testicles and others.[] Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had[] Parental exposure to these toxins is thought to explain a large portion of congenital reproductive malformations, such as micropenis, hypospadias (urethra on underside of[]

  • Hanhart Dwarfism

    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)[] Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism[] Cyclopia Cyclops hypognathus Cylindrical embryo Danon disease De Lange syndrome Deafness-dystonia-optic neuronopathy syndrome Derencephalus Diaphragmatic hernia, abnormal face[]

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