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1,967 Possible Causes for Cryptorchidism, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3.[web.archive.org] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net]

    Missing: Overfolded Superior Helix
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] RESULTS: Cryptorchidism was observed in 27.5% of the patients (95CI 15.98-42.96).[ncbi.nlm.nih.gov] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • 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] McDonough syndrome 0 *Abnormalities, Multiple *Cryptorchidism *Heart Defects, Congenital *Kyphosis *Intellectual Disability *Facies Rectus Abdominis/abnormalities.[reference.md]

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest.[ncbi.nlm.nih.gov] Findings that are somewhat less prevalent in these patients include: Cryptorchidism, hypospadias, hypoplasia or agenesis of the kidneys, frequent urinary tract infections,[symptoma.com]

    Missing: Overfolded Superior Helix
  • Seckel Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth[en.wikipedia.org] ., cryptorchidism).[medical-dictionary.thefreedictionary.com]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] Is also known as arthrogryposis, distal, type 1;da1, arthrogryposis multiplex congenita, distal, type i;amcd1 Related symptoms: Autosomal dominant inheritance Scoliosis Cryptorchidism[mendelian.co] […] mirror hands and feets-nasal defects syndrome; sandrow syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Hypertelorism Muscular hypotonia Cryptorchidism[mendelian.co]

    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] Treatment is based on the signs and symptoms present in each person. 0001249 Obesity Having too much body fat 0001513 30%-79% of people have these symptoms Cryptorchidism[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
  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] […] deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism[ncbi.nlm.nih.gov] Cryptorchidism and hypospadias (male) and clitoromegaly (female) may occur. CNS function is severely affected and infants have profound psychomotor delay.[orpha.net]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] […] asymmetry cleft lip / - palate conductive hearing loss growth intra-uterine growth restriction (IUGR) : can be severe cardiac anomalies urogenital anomalies hypospadias cryptorchidism[radiopaedia.org] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • Denys-Drash Syndrome

    transverse palmar crease and hypoplastic nails.[scielo.br] Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse[ncbi.nlm.nih.gov] On examination, the child was dehydrated with bilateral palpable renal lumps; bilateral cryptorchidism and penoscrotal hypospadias [Figure 1] a and b.[jiaps.com]

    Missing: Overfolded Superior Helix

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