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435 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Microphallus

Did you mean: Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD, Microphallus

  • Fraser Syndrome

    Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.[ncbi.nlm.nih.gov] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[checkorphan.org] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly ) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[encyclopedia.com]

    Missing: Microcephaly (2-3 SD)
  • Pitt-Hopkins Syndrome

    Height 19 80 24 Weight 9 58 16 OFC 17 65 26 OFC on 2 SD 13 49 27 Microcephaly 56 113 50 Developmental findings Severe ID or DD 117 119 98 0 3 Hypotonia 69 80 86 Delayed walking[ojrd.biomedcentral.com] 104 70 Strabismus 65 113 58 0 3 Myopia 43 86 50 2 3 Gastrointestinal findings 17 26 65 0 3 Constipation 66 101 65 GER 8 44 18 Hirschsprung disease 1 74 1 Growth findings 0 3[ojrd.biomedcentral.com]

    Missing: Cutaneous Syndactyly of Digits
  • Ulnar Mammary Syndrome

    syndactyly between second and third fingers.[doi.org] Figure 2 Radiographs of the arms showing bilateral aplasia of ulnae, and absence of fourth and fifth digit including, metacarpalia and carpalia, distal hypoplasia of humeri[doi.org] […] fourth and fifth rays, hypoplastic fingers one, two, and three with flexion contractures of the middle interphalangeal joints of finger two and three on both hands, partial cutaneous[doi.org]

    Missing: Microcephaly (2-3 SD)
  • Malpuech Syndrome

    There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Microcephaly-Oculo-Digito-Esophageal-Duodenal (Moded) Syndrome Microcephaly-Sparse Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate[neo-genetics.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com]

  • Sclerosteosis Type 2

    Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org]

    Missing: Microphallus
  • Saethre-Chotzen Syndrome

    Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present.[orpha.net] Leukodystrophy with 11q14.2-q14.3 Leukodystrophy is accompanied by epileptic seizure in infants, severe psychomotor disabilities, growth and developmental disorders, microcephaly, microphallus[nipt.ng]

    Missing: Microcephaly (2-3 SD)
  • Pallister-Hall Syndrome

    Some patients have mild partial cutaneous syndactyly of a few digits and this spectrum continues through to complete cutaneous syndactyly of all digits, not unlike that seen[ojrd.biomedcentral.com] We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years.[ncbi.nlm.nih.gov] Hypothyroidism, microphallus, and cryptorchidism have been reported also.[ajnr.org]

    Missing: Microcephaly (2-3 SD)
  • 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: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • CHARGE Syndrome

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

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • 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.[iamg.in]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)