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1,125 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Mostly Sporadic, Partial Alopecia

  • Facial Hemiatrophy

    - A dictionary of medical eponyms Related people Caleb Hillier Parry Moritz Heinrich Romberg A rare disorder characterized by progressive atrophy of some or all tissues on one side of the face, occasionally extending to other parts of the body. The process may be bilateral in 5% to 10% of cases. Tissues involved[…][whonamedit.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Abstract We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that[…][doi.org]

    Missing: Partial Alopecia
  • Poland Syndrome

    […] a rare congenital anomaly with absence or hypoplasia of pectoral muscles, anomaly of breast or nipple, hypoplasia of subcutaneous tissue, chest wall deformity, pectoral alopecia[erj.ersjournals.com] Here, we present 8 patients with complete or partial absence of bilateral major pectoral muscles, hypoplasia of bilateral minor pectoral muscles, bilateral absence or hypoplasia[erj.ersjournals.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cerebellotrigeminal Dermal Dysplasia

    The cause of this exaggerated fusion, associated with a failure of vermian differentiation, is unknown  The anomaly is mostly sporadic.[slideplayer.com] Based on literature and our experience, we propose the presence of trigeminal anesthesia and/or partial alopecia of the scalp to complete the diagnosis of the syndrome.[ncbi.nlm.nih.gov] Abstract Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome char- acterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia[jstage.jst.go.jp]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cronkhite-Canada Syndrome

    The literature on CCS consists mostly of case reports. Although disease presentation has been well-described, there is no consensus on the management of CCS.[insights.ovid.com] On examination she had titubation, partial alopecia and severe onycholysis. BP 140/80 mm Hg, HR 70/min. Rectal examination showed a palpable mass.[endocrine-abstracts.org] The manifestations of the integuments (partial alopecia and onychotrophia), associated with gastric polyposis, support the diagnosis of Cronkhite-Canada syndrome raised during[em-consulte.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Partial Alopecia
  • Costello Syndrome

    Delineate prenatal features of Costello syndrome (caused by HRAS mutations), which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in[…][ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Partial Alopecia
  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Synonyms al awadi-farag-teebi syndrome primary hypergonadotropic hypogonadism - partial alopecia Etiology Please input defination information here.[pediascape.org] Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput[ncbi.nlm.nih.gov] Jordan Al-Awadi et al. (1985) reported three siblings (two females and a male) with primary hypogonadism and partial alopecia.[cags.org.ae]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Follicular Thyroid Carcinoma

    Sporadic MTC occurs mostly in adults, does not occur in families, and usually affects only one lobe of the thyroid gland.[northshore.org] Despite alopecia, other treatment-related adverse events did not occur.[ncbi.nlm.nih.gov] The first type, occurring in about 8 out of 10 cases, is called sporadic MTC. Sporadic MTC is not inherited; that is, it does not run in families.[cancerschmancer.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mandibuloacral Dysostosis

    Diagnosis is mostly made on the basis of clinical and radiographic features.[jocr.co.in] Definition A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia,[uniprot.org] These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy[scholar.um5.ac.ma]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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