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19 Possible Causes for Male Sterility, Round Face in Infancy, Short Stature

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal[e-enm.org] stature.[ncbi.nlm.nih.gov]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov] Results Tafazzin Deficiency Causes Male Sterility in Drosophila .[pnas.org] In early childhood, the face is round with full cheeks and an overall “cherubic” appearance (see Figure 8 ), whereas after the first decade and especially after puberty, the[ncbi.nlm.nih.gov]

  • XXXXY Syndrome

    Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[ncbi.nlm.nih.gov] Definition (CSP) genetic disease that produces sterile males with small testes lacking sperm due to XXY karyotype.[fpnotebook.com] face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]

  • Cole-Carpenter Syndrome

    The skull is poorly ossified and frequent diaphyseal fractures of the long bones occur leading to motor delays and short stature. Rib fractures are sometimes seen.[disorders.eyes.arizona.edu] A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.[scindeks.ceon.rs] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co]

  • Wolf-Hirschhorn Syndrome

    This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360-760 kb.[ncbi.nlm.nih.gov] Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[alpfmedical.info]

  • Mosaic Monosomy X

    Signs and symptoms include short stature and hypogonadism.[icd10data.com] Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[alpfmedical.info] […] and fertility as well as short stature.[emedicine.medscape.com]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1 . J Hum Genet. 2006;51(8):695-700.[disorders.eyes.arizona.edu] Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[fatchiyah.lecture.ub.ac.id] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]

  • Familial Hypospadias

    stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus.[embryology.med.unsw.edu.au] The affected males are sterile, but germ cells with mitotic activity are present in the testes.[whonamedit.com] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Cutaneous mastocytosis - short stature - conductive hearing loss - microtia is a rare syndrome.[symptoma.com] Steril. 29: 239-240, 1978. 4. Fryns, J. P.; Vogels, A.; Decock, P.; van den Berghe, H.: The hand-foot-genital syndrome: on the variable expression in affected males.[genome.jp] Craniofacial features: i. round face in infancy, ii. a prominent forehead (70%), iii. hypertelorism (76%), iv. narrow palpebral fissures (79%), v. a long philtrum (91%), vi[fetalultrasound.com]

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