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115 Possible Causes for Hypospadias, Sacral Dimple

  • Dubowitz Syndrome

    Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[ncbi.nlm.nih.gov] Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects.[ncbi.nlm.nih.gov] Skeletal abnormalities in DS include sacral dimple, and clinodactyly (5th fingers), with cutaneous syndactyly of toes or fingers.[orpha.net]

  • Smith Lemli Opitz Syndrome

    Other rare associated malformations include diaphragmatic hernia, anal atresia, thymus hypoplasia, sacral dimple, pyloric stenosis, Hirschsprung’s disease.[omicsgroup.org] Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias[ncbi.nlm.nih.gov] On examination, he had cyanosis, facial dysmorphism, obesity, bilateral cryptorchidism, hypospadias, inverted nipples, and systolic murmur over the left parasternal area.[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[geneticdisordersuk.org] […] syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal[orphananesthesia.eu] dimple (HPO:0000960) – – – – – 4/16; 25% Absent palmar proximal transverse creases (HPO:0010489) – – – – – – 2/16; 13% Deep palmar crease (HPO:0006191) – – – – – – – 1/16[ojrd.biomedcentral.com]

  • Acro-Fronto-Facio-Nasal Dysostosis

    dimple ?[myslide.es] […] parents (F 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small "blind dimple" in each side, hypospadias[ncbi.nlm.nih.gov] Iliac hypoplasia, short legs, and hypospadias.[accessanesthesiology.mhmedical.com]

  • Wolf Hirschhorn Syndrome

    dimples.[ncbi.nlm.nih.gov] Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities[ncbi.nlm.nih.gov] dimples and a characteristic face ('Greek helmet appearance') 1,2 .[cytocell.com]

  • Naguib Syndrome

    dimple Spinal dimple 0000960 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Broad hallux Broad big toe Wide[rarediseases.info.nih.gov] Hypertelorism-hypospadias-polysyndactyly syndrome, Acro-fronto-facio-nasal dysostosis type 2, AFFN dysostosis 2, AFFND2, Acro-fronto-facio-nasal syndrome type 2 Symptoms -[checkorphan.org] Iliac hypoplasia, short legs, and hypospadias.[accessanesthesiology.mhmedical.com]

  • Trisomy 4p

    dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism.[ncbi.nlm.nih.gov] Affiliated tissues include heart , and related phenotypes are cryptorchidism and hypospadias[malacards.org] Triangular face in adults * Poor dentition * Elongated chin * Clinodactyly of fifth fingers * Camptodactyly * Hypoplastic fingernails * Hypoplastic toenails * Small penis * Hypospadias[checkorphan.org]

  • Hay-Wells Syndrome

    dimple Q82.8 Other specified congenital malformations of skin Q82.9 Congenital malformation of skin, unspecified Q83 Congenital malformations of breast Q83.0 Congenital absence[icd10data.com] These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males.[ncbi.nlm.nih.gov] References Cardiovascular Abnormalities of septum Craniofacial Ankyloblepharon filiforme adnatum Broadened nasal bridge Cupshaped auricles Oval face Genitourinary Hypospadias[datagenno.com]

  • Malpuech Syndrome

    Dimple-Joint Laxity Syndrome Mental Retardation-Polydactyly-Phalangeal Hypoplasia-Syndactyly-Unusual Face-Uncombable Hair Syndrome Mental Retardation-Psoriasis Syndrome Mental[neo-genetics.com] Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.[ncbi.nlm.nih.gov] Prolapse-Characteristic Face Syndrome Mental Retardation-Overgrowth Sequence Mental Retardation-Overgrowth Syndrome Mental Retardation-Overgrowth-Craniosynostosis-Distal Arthrogryposis-Sacral[neo-genetics.com]

  • Trisomy 20p

    dimpling.[ncbi.nlm.nih.gov] The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly[ncbi.nlm.nih.gov] […] anomalies Midline Monosomy 9p TRANSLOCATION MIDLINE FACIAL DEFECTS DELETION 9P array-CGH REGION DISTAL 9P GENETICS & HEREDITY FRONTONASAL MALFORMATION HYPERTELORISM ARM HYPOSPADIAS[query.library.utoronto.ca]

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