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Oculo-Osteo-Cutaneous Syndrome

Brachymetapody - Anodontia - Hypotrichosis - Albinoidism


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • Presentations involving More information MODERN IMMUNOHISTOCHEMISTRY MODERN IMMUNOHISTOCHEMISTRY Cambridge Illustrated Surgical Pathology Peiguo G. Chu City of Hope National Medical Center, Duarte, California Lawrence M.[docplayer.net]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Charles C Thomas Publisher, ٠١‏/٠١‏/١٩٩٣ - 1626 من الصفحات The purpose of this book is to present a synopsis of what is known about substances that have toxic properties injurious to the eyes, disturbing to vision, or affecting eyes in other unwanted[books.google.com]
  • Summary : Anodontia is a dental condition characterized by complete absence of teeth. [1, 2] The primary (baby) or permanent (adult) teeth may be involved. [1] Anodontia is extremely rare when present in a pure form (without associated abnormalities).[familydiagnosis.com]
Short Stature
  • Stature and Facioauriculothoracic Malformations SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS SHORT STATURE, FACIAL DYSMORPHISM[rgd.mcw.edu]
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short[malacards.org]
  • Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).[ncbi.nlm.nih.gov]
  • Clinical: Short stature; brachydactyly; hypoplastic maxilla; scanty hair; hypopigmentation; mental retardation. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12 th ed.[esanatos.com]
Short Finger
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short[malacards.org]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.es]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.es]
Corneal Opacity
  • Symptoms - Less than 30% cases Aplastic clavicle Cardiomyopathy Thickened nuchal skin fold Inguinal hernia Splenomegaly Submucous cleft hard palate Polydactyly Myopathy Intellectual disability, mild Underdeveloped supraorbital ridges Microphthalmia Corneal[mendelian.co]
  • * Cleft lip palate abnormal thumbs microcephaly * Cleft lip palate deafness sacral lipoma * Cleft lip palate dysmorphism Kumar type * Cleft lip palate ectrodactyly * Cleft lip palate incisor and finger anomalies * Cleft lip palate mental retardation corneal[medicalgeek.com]
  • opacity Cleft lip palate oligodontia syndactyly pili torti Cleft lip palate pituitary deficiency Cleft lip palate-tetraphocomelia Cleft lower lip cleft lateral canthi chorioretinal Cleft palate cardiac defect ectrodactyly Cleft palate colobomata radial[rarediseases.annualcongress.com]
Alopecia
  • […] syndrome ablepharon macrostomia syndrome Abuse Dwarfism Syndrome achondroplasia acromesomelic dysplasia ADULT syndrome Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Albinism Deafness Syndrome Aloi Tomasini Isaia Syndrome alopecia[rgd.mcw.edu]
  • Review 1984 Review 1984 Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Robert E Tipton , Robert J.[semanticscholar.org]
  • The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders.[keratin.com]
  • 2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and[nfed.org]
Sparse Hair
  • hair 32 HP:0008070 20 distichiasis 32 HP:0009743 21 short phalanx of finger 32 HP:0009803 22 short metacarpal 32 HP:0010049 23 short metatarsal 32 HP:0010743 UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism: irregular nystagmus[malacards.org]
  • This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies.[ncbi.nlm.nih.gov]
  • Hair Thai Symphalangism Syndrome Thoraco Limb Dysplasia Rivera Type Thoracomelic Dysplasia Three M Syndrome 2 Thumb Deformity, Alopecia, Pigmentation Anomaly tooth and nail syndrome torsion dystonia with onset in infancy Trichoodontoonychial Dysplasia[rgd.mcw.edu]
  • In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth.[nfed.org]
No Pubic Hair
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short[malacards.org]
  • Absent pubic hair MedGen UID: 349155 • Concept ID: C1859391 • Finding Absence of pubic hair. Absent axillary hair MedGen UID: 347869 • Concept ID: C1859392 • Finding Absence of axillary hair.[ncbi.nlm.nih.gov]
  • hair; thin to absent body hair; follicular hyperkeratosis Sparse; alopecia Sparse; fine and slow-growing hair Woolly, wavy, wiry and auburn hair; sparse eyebrows and eyelashes Hair Absence of mandibular central incisors; misshaped; proeminent Normal[docksci.com]
No Pubic Hair
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: low-set ears Growth Height: short stature Skin Nails Hair Hair: absent axillary hair absent pubic hair thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short[malacards.org]
  • Absent pubic hair MedGen UID: 349155 • Concept ID: C1859391 • Finding Absence of pubic hair. Absent axillary hair MedGen UID: 347869 • Concept ID: C1859392 • Finding Absence of axillary hair.[ncbi.nlm.nih.gov]
  • hair; thin to absent body hair; follicular hyperkeratosis Sparse; alopecia Sparse; fine and slow-growing hair Woolly, wavy, wiry and auburn hair; sparse eyebrows and eyelashes Hair Absence of mandibular central incisors; misshaped; proeminent Normal[docksci.com]
Renal Impairment
  • Impairment Iridogoniodysgenesis and Skeletal Anomalies iridogoniodysgenesis syndrome Iridogoniodysgenesis Type 2 isolated growth hormone deficiency Joubert syndrome 1 Joubert Syndrome 2 Joubert syndrome 9 Kapur Toriello Syndrome Kenny Caffey Syndrome[rgd.mcw.edu]
Pendular Nystagmus
  • Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life.[ncbi.nlm.nih.gov]
Involuntary Movements
  • Nystagmus MedGen UID: 45166 • Concept ID: C0028738 • Disease or Syndrome Involuntary movements of the eye that are divided into two types, jerk and pendular.[ncbi.nlm.nih.gov]

Treatment

  • Treatment - Brachymetapody anodontia hypotrichosis albinoidism Not supplied. Resources - Brachymetapody anodontia hypotrichosis albinoidism Not supplied.[checkorphan.org]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • Diagnosis and treatment. Haemophilus vaginalis infection. Diagnosis and treatment. J Reprod Med. 1980 Feb;24(2):71-5. PubMed Your browsing activity is empty. Activity recording is turned off. Turn recording back on See more...[ncbi.nlm.nih.gov]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]

Prognosis

  • Prognosis - Brachymetapody anodontia hypotrichosis albinoidism Not supplied. Treatment - Brachymetapody anodontia hypotrichosis albinoidism Not supplied. Resources - Brachymetapody anodontia hypotrichosis albinoidism Not supplied.[checkorphan.org]
  • Achillion Aeglea BioTherapeutics Agilis Biotherapeutics List of Rare Disease Registries in Europe EUROFA EUROMAC EUROPAC European Porphyria Registry GPOH-registry sickle cell disease PROGNOSIS SCETIDE Thromboreductin-Registry EURO-WABB ECARUCA CEDATA-GPGE[rarediseases.annualcongress.com]

Etiology

  • Etiology, pathogenesis, clinical manifestations. Diagnostic criteria, differential diagnosis, complications and outcomes. Treatment.[docplayer.net]
  • Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis.[docksci.com]
  • This news enables haler parental edification in the matter of the etiology, unaffected his- tory, and prophecy in compensation their offspring.[spigogroup.com]
  • SOURCES: MONDO GARD ORPHANET OMIM NCIT More info about CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 High match NICOLAIDES-BARAITSER SYNDROME; NCBRS Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology[mendelian.co]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • , EMA and OMIM ;- Registres, RARECARE- Medline is consulted using the search algorithm: Disease names AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/abstract] OR Epidemiology[Title/abstract] ;- Medical books, grey literature[documents.tips]
  • Therefore, these estimates are an indication of the assumed prevalence but may not «Disease names» AND Epidemiology[MeSH:NoExp] be accurate.[fliphtml5.com]
Sex distribution
Age distribution

Pathophysiology

  • Stalking Awareness Month (United States) Slavery and Human Trafficking Prevention Month (United States) Glaucoma Awareness More information Systemic Lupus Erythematosus Harvard-MIT Division of Health Sciences and Technology HST.021: Musculoskeletal Pathophysiology[docplayer.net]
  • Molecular genetics and pathophysiology of 17-beta-hydroxysteroid dehy- drogenase 3 deficiency.[spigogroup.com]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.es]
  • Prevention - Brachymetapody anodontia hypotrichosis albinoidism Not supplied. Diagnosis - Brachymetapody anodontia hypotrichosis albinoidism Not supplied. Prognosis - Brachymetapody anodontia hypotrichosis albinoidism Not supplied.[checkorphan.org]
  • Biomedical Research Pharmacia AB Box 181 181 References 182 The Patient 193 F Summary 203 G Laboratory Procedures to Detect SerumSickness Syndrome Type III 217 J Conclusions 223 H SCHNEIDER Institut für klinische Immunologie Inselspital CH3010 Bern 229 Prevention[books.google.com]
  • More information Causes of the Month CALENDAR JANUARY National Codependency Awareness Month National Mentoring Month (United States) Stalking Awareness Month (United States) Slavery and Human Trafficking Prevention Month (United States) Glaucoma Awareness[docplayer.net]
  • With treatment, doctors often can prevent loss of vision.[familydiagnosis.com]

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