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290 Possible Causes for High-Arched Palate (61%), Microphallus

Did you mean: High-Arched Palate (61, ), Microphallus

  • Moebius Syndrome

    palate (61%) tongue hypoplasia (77%), teeth defects (37%) Limb malformations Syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles[] 2 ] Associated abnormalities [ 1 ] Orofacial dysmorphism Micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched[]

  • Hypogonadotropic Hypogonadism

    The twins manifested with microphallus, cryptorchidism, and deficient postnatal activation of the hypothalamic-pituitary-gonadal axis, findings consistent with IHH.[] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[] Beyond single case reports, data are not available for 48,XXXY; however, microphallus is described in case reports, ( 10 ) and it is predicted that mean phallus length would[]

    Missing: High-Arched Palate (61%)
  • CHARGE Syndrome

    Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[]

    Missing: High-Arched Palate (61%)
  • Warburg Micro Syndrome 3

    He had microphallus, scrotal hypoplasia and atrophic testes. He had axial hypotonia and the deep tendon reflexes were brisk. There was no organomegaly.[]

    Missing: High-Arched Palate (61%)
  • Laurence Moon Syndrome

    Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome This is a rare autosomal recessive condition. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which[…][]

    Missing: High-Arched Palate (61%)
  • Anorchia

    Physical examination may reveal microphallus or normal external male genitalia with bilateral or unilateral palpable intrascrotal or inguinal masses or no palpable masses.[] Family members of 7/26 cases had histories of primary ovarian failure in the mother (n   2), or sister 46,XX, together with fetal malformations of the only boy with microphallus[] However, they reported microphallus in 46% of patients, with similar proportions in boys with or without a palpable mass, whilst only one of our boys had microphallus.[]

    Missing: High-Arched Palate (61%)
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the[…][]

    Missing: High-Arched Palate (61%)
  • Fraser Syndrome

    Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is crucial to get prenatal diagnosis[…][]

    Missing: High-Arched Palate (61%)
  • Ambiguous Genitalia

    In this present study, we report a normal male karyotype manifesting microphallus, bifid scrotum/labia majora with bilateral palpable gonads, and a blind-ended pseudovagina[] Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or mid-shaft hypospadias with undescended testis.[] Genitalia can be ambiguous and are frequently assigned to the female gender because of microphallus, fused scrotum, absent testes, and absence of the uterus.[]

    Missing: High-Arched Palate (61%)
  • Ulnar Mammary Syndrome

    The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical descriptions of 33 members of a six[…][]

    Missing: High-Arched Palate (61%)

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