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503 Possible Causes for Large Penis, Mongoloid Slant, Short Humerus

  • Wiedemann-Rautenstrauch Syndrome

    penis Growth Postnatal growth deficiency Hearing Sensorineural hearing loss Intrauterine development Intrauterine growth retardation Joints and Tendons Joint contractures[] Cardiovascular Cardiovascular abnormalities Ventricular dilatation with cortical atrophy Endocrine and/or Exocrine Hyperprolactinemia Hypothyroidism Genitourinary Hypoplastic prepuce Large[]

  • Down Syndrome

    (95% CI, 0.06-0.29) when short humerus but not short femur was included.[] In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[] (95% CI, 0.06–0.29) when short humerus but not short femur was included.[]

    Missing: Large Penis
  • Rhizomelic Chondrodysplasia Punctata Type 1

    The baby had short humerus bones with stippled epiphy-ses, consistent with the disease.[] The rhizomelic chondrodysplasia presents: short femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.[] Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones Click here to view Abdominal and cranial ultrasonography[]

    Missing: Large Penis
  • Chromosome 6q11-q14 Deletion Syndrome

    . - short or absent ulna and/or humerus - malformations of hip or knee - heart defects e.g.[] Clinodactyly of the 5th finger Narrow mouth Prominent forehead Abnormality of the genital system High forehead Hyperactivity Autism Wide nose Ambiguous genitalia Hypoplasia of penis[] […] dislocation Pointed chin Lissencephaly Disproportionate tall stature Sensorineural hearing impairment Cryptorchidism Hypospadias Congenital diaphragmatic hernia Sloping forehead Large[]

  • Robinow Syndrome

    Short radius, ulna and tibia. Absent fibula. Normal femur humerus. Ligamentous laxity. Shortening of all long bones (especially tibia and radius).[] […] philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macroglossia Abnormally large tongue Increased size of tongue Large[] There is a mongoloid appearance to the eyes due to the slanting palpebral fissures, the ears are low set, the nose is flat, and there is micrognathia. 4.42 h Figure 4.43.[]

  • Wolcott-Rallison Syndrome

    Abstract Wolcott-Rallison syndrome (WRS) is a rare condition characterized by permanent neonatal diabetes (PND), skeletal dysplasia, and recurrent hepatitis. Other features, including central hypothyroidism, have been reported. We compared the phenotype of five patients from two families with WRS caused by the[…][]

    Missing: Large Penis Short Humerus
  • Kaufman Oculocerebrofacial Syndrome

    Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[] slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible. * [19461] References: Kaufman[] slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds[]

    Missing: Large Penis Short Humerus
  • Humerus Trochlea Aplasia

    Human phenotypes related to Trochlea of the Humerus, Aplasia of: 33 # Description HPO Frequency HPO Source Accession 1 cleft palate 33 HP:0000175 2 short humerus 33 HP:0005792[] There may also be other anomalies such as hypogonadism, horseshoe kidney, bladder obstruction, a micro penis, anal atresia and Hirschsprung disease (large intestine).[] TROCHLEA OF THE HUMERUS, APLASIA OF Limbs - Aplasia of trochlea of humerus [SNOMEDCT: 732928005 ] [UMLS: C1860773 ] - Flexed elbows - Pronated forearms - Short humerus [UMLS[]

    Missing: Mongoloid Slant
  • Ulnar Mammary Syndrome

    […] scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis[] Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus[]

    Missing: Large Penis Mongoloid Slant
  • Facioauriculoradial Dysplasia

    humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia[] […] frequent (99-80%) HP:0005288 16 ulnar bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0003031 17 radial club hand 59 32 frequent (33%) Frequent (79-30%) HP:0004059 18 short[]

    Missing: Large Penis Mongoloid Slant

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