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1,144 Possible Causes for Coarse Facial Features, Cone-Shaped Epiphyses of Middle Phalanges, Short Stature - 5th-10th Percentile

  • Trichorhinophalangeal Syndrome

    The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12.[ncbi.nlm.nih.gov] epiphyses of the middle phalanges of some fingers and toes. [2] : 578 [3] It has been associated with TRPS1. [4] See also [ edit ] Skin lesion List of cutaneous conditions[en.wikipedia.org] […] nails 0001598 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Cone-shaped epiphyses of the proximal phalanges[rarediseases.info.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Distal Symphalangism

    epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[ncbi.nlm.nih.gov] facial features Diabetes mellitus Abnormality of the dentition Chorioretinal dystrophy Frontal bossing Hypertension Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia[mendelian.co] epiphyses of middle phalanges of fingers , and absence of scaphoid, trapezium, trapezoid, and pisiform bones .[wikigenes.org]

    Missing: Short Stature - 5th-10th Percentile
  • Third Trimester Pregnancy

    The concomitant phenomenon of a third trimester pregnancy with a significant degree of pelvic organ prolapse is extremely rare. We report on a patient with pelvic organ prolapse complicating third trimester pregnancy treated by concomitant cesarean hysterectomy and abdominal sacrocolpopexy. A 30-year-old woman,[…][ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Chronic Alcoholism

    The concept of "structural plasticity" has emerged as a potential mechanism in neurodegenerative and psychiatric diseases such as drug abuse, depression, and dementia. Chronic alcoholism is a progressive neurodegenerative disease while the person continues to abuse alcohol, though clinical and imaging studies show[…][ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] epiphysis Increased number of teeth Exostoses Sparse lateral eyebrow Long upper lip High forehead Accelerated bone age after puberty Pear-shaped nose Cone-shaped epiphyses[mendelian.co] facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal[rasopathiesnet.org] MPS IH is the most severe and has an early onset consisting of skeletal deformities, coarse facial features, hepatosplenomegaly, macrocephaly, cardiomyopathy, hearing loss[mayomedicallaboratories.com]

    Missing: Short Stature - 5th-10th Percentile
  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Simpson Dysmorphia Syndrome

    facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[zora.uzh.ch] The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue.[samj.org.za] […] encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse[zora.uzh.ch]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[mps1disease.com] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile

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