Create issue ticket

4,114 Possible Causes for Hypoplastic Testicle, Prominent High Nasal Root, Short Stature

  • Schwartz-Jampel Syndrome

    The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] We report a female infant, born at 30 weeks of gestation, who exhibited generalized myotonia, facial dysmorphism, blepharophimosis, and short stature at birth.[ncbi.nlm.nih.gov]

  • Renpenning Syndrome

    From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly).[malacards.org]

  • Woodhouse Sakati Syndrome

    Case report; In a 52-year-old woman from a consanguine pedigree we observed mental retardation, short stature, alopecia with absence of eyebrows, hypogonadism, primary amenorrhea[bib.irb.hr] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent[rarediseases.info.nih.gov] stature ( Laron syndrome, Psychogenic dwarfism ) - Multiple endocrine neoplasia ( 1, 2 ) - Progeria - Woodhouse-Sakati syndrome[wikidoc.org]

  • Brandt Syndrome

    AE is associated with short stature, anaemia, skin hyperpigmentation, hepatosplenomegaly, hypogonadism, poor wound healing, immune deficiency, recurrent bacterial and fungal[medical-dictionary.thefreedictionary.com] stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Blepharitis Inflammation of eyelids 0000498 Cheilitis Inflammation of the[rarediseases.info.nih.gov] Other issues may include speech apraxia/dyspraxia, short stature, small hands and feet, scoliosis, sleep disturbances with excessive daytime sleepiness, undescended testicles[fpwr.ca]

    Missing: Prominent High Nasal Root
  • Kearns-Sayre Syndrome

    Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov] Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia.[ncbi.nlm.nih.gov] stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Chromosome 18p Deletion Syndrome

    […] by a deletion of the short arm (the p arm) of chromosome 18; typical features include: mental retardation, short stature & short thumbs. 18q- occurs in about 1 of every 40,000[handresearch.com] We report a female patient referred to us at age 18 years because of mental retardation associated with short stature.[scholars.uthscsa.edu] The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae.[doi.org]

    Missing: Prominent High Nasal Root
  • Kallmann Syndrome Type 4

    Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser[jmg.bmj.com] Short stature may develop during childhood. Myopia (short sightedness) is common. Treatments for: There is no cure for 4H syndrome; treatment is supportive.[leukodystrophyresourceresearch.org] 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]

    Missing: Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 22

    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] E34.1 Other hypersecretion of intestinal hormones E34.2 Ectopic hormone secretion, not elsewhere classified E34.3 Short stature, not elsewhere classified Short stature: ·[apps.who.int] Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: D-CHRAMPS syndrome.[jpma.org.pk]

    Missing: Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 8

    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] E34.1 Other hypersecretion of intestinal hormones E34.2 Ectopic hormone secretion, not elsewhere classified E34.3 Short stature, not elsewhere classified Short stature: ·[apps.who.int] A 21-year male is admitted for short stature. By the age of 3, he suffered 4 surgical procedures for bilateral cryptorchidism without improvement.[umbalk.org]

    Missing: Prominent High Nasal Root
  • Warburg Micro Syndrome 3

    stature, severe mental retardation, and cerebral malformations.[cags.org.ae] Their short stature was associated with severe osteopenia, mild growth hormone deficiency (levels -2.2 to 43 SDS), but appropriate bone age and normal calcium, phosphate,[ojrd.biomedcentral.com] dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome LIFR Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia[genda.com.ar]

    Missing: Prominent High Nasal Root

Similar symptoms