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609 Possible Causes for Microphallus, Overfolded Superior Helix, Single Transverse Palmar Crease

  • 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[…][ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Laurence Moon Syndrome

    transverse palmar creases 0007598 Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes 0001156 Cataract Clouding of the lens of the eye Cloudy[rarediseases.info.nih.gov] Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of cardiovascular system morphology 0030680 Ataxia 0001251 Bilateral single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

    Missing: Microphallus
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

    Missing: Microphallus
  • Camptodactyly Syndrome Type Guadalajara III

    transverse palmar crease Intrauterine growth retardation Talipes equinovarus Hallux valgus Short 2nd ... ...[familydiagnosis.com] transverse palmar crease 0000954 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples[rarediseases.info.nih.gov] II : Autosomal recessive inheritance Labial hypoplasia Microcephaly Long philtrum Micrognathia Low-set ears Macrotia Short neck Hypotelorism Pectus excavatum Osteopenia Single[familydiagnosis.com]

    Missing: Overfolded Superior Helix
  • Arthrogryposis Multiplex Congenita

    transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus Lockjaw 0000211 Ulnar deviation of the hand or of fingers of the hand 0001193 Showing of 30 Last updated:[rarediseases.info.nih.gov] A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence … Avenues: A National Support Group for Arthrogryposis[ibis-birthdefects.org] […] cord Hypertelorism Pulmonary hypoplasia Retardation of the growth of the patient Fetal akinesia Hernia either umbilical or inguinal Scoliosis Genital deformities such as microphallus[healthzene.com]

    Missing: Overfolded Superior Helix
  • Hypogonadotropic Hypogonadism Type 18

    transverse palmar crease Microcephaly Abnormality of metabolism/homeostasis Intellectual disability Hypogonadism Congenital sensorineural hearing impairment Tibial bowing[mendelian.co] 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.[omicsonline.org] Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[merckmanuals.com]

    Missing: Overfolded Superior Helix
  • Multiple Congenital Anomalies

    There were congenital flexion contracture in most joints, cletched hands and bilateral single transverse palmar crease.[journals.lww.com] The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment.[ncbi.nlm.nih.gov] Be able to distinguish major anomalies (such as cleft palate, congenital cardiac defects) from minor anomalies (single transverse palmar crease) It is important to specifically[med.umich.edu]

    Missing: Overfolded Superior Helix
  • Hypogonadotropic Hypogonadism

    The twins manifested with microphallus, cryptorchidism, and deficient postnatal activation of the hypothalamic-pituitary-gonadal axis, findings consistent with IHH.[ncbi.nlm.nih.gov] 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.[omicsonline.org] 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[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix Single Transverse Palmar Crease
  • Neurogenic Arthrogryposis Multiplex Congenita

    transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus Lockjaw 0000211 Ulnar deviation of the hand or of fingers of the hand 0001193 Showing of 30 Last updated:[rarediseases.info.nih.gov] A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3.[icd9data.com] Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal[mendelian.co]

    Missing: Overfolded Superior Helix