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Acrofacial Dysostosis Type Catania

Opitz-Caltabiano Syndrome


Presentation

  • Upper limb malformation is a constant feature of Nager syndrome More Details and ranges from thumb hypoplasia to absence of the radial ray. [3] We present an interesting case of Nager syndrome presenting with not only craniofacial and upper limb defects[jofs.in]
  • This bone may be present in approximately 2-21% of the population and is usually asymptomatic. When it is symptomatic, surgery may be necessary, surgery can be performed at any age because it does not alter any other bones.[wikivisually.com]
  • Problems and Possibilities of Therapy 119 Downloads 11 Citations Abstract: The congenital Nager acrofacial dysostosis syndrome is presented, and possibilities and problems in the treatment of these patients are described.[link.springer.com]
  • Education & Training Certifications & Licensure Publications & Presentations PubMed 179 citations Inflammatory markers in intrauterine and fetal blood and cerebrospinal fluid compartments are associated with adverse pulmonary and neurologic outcomes in[doximity.com]
Dysostosis
  • MalaCards based summary : Acrofacial Dysostosis, Catania Type, also known as acrofacial dysostosis catania form , is related to alveolar capillary dysplasia with misalignment of pulmonary veins and dyskeratosis congenita, autosomal dominant 6 .[malacards.org]
  • @article{Wulfsberg1996ConfirmationOT, title {Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.}, author {Eric A. Wulfsberg and A. Bruce Campbell and Iosif W Lurie and Karen R.[semanticscholar.org]
  • Detection AFD Application for Degree (form) AFD Anti Friction Device (ski bindings) AFD Active Format Descriptor AFD Action for Development (Ethiopia) AFD Alt.fan.dragons (Usenet newsgroup) AFD Automatic Fire Damper (energy equipment) AFD Acrofacial Dysostosis[acronyms.thefreedictionary.com]
Short Stature
  • Affiliated tissues include bone , and related phenotypes are pectus excavatum and finger syndactyly OMIM : 57 The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability[malacards.org]
  • [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild[semanticscholar.org]
  • Orpha Number: 1786 Disease definition Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis (see this term) characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial[rarediseases.info.nih.gov]
Disability
  • Affiliated tissues include bone , and related phenotypes are pectus excavatum and finger syndactyly OMIM : 57 The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability[malacards.org]
  • German political party; est. 2013) AFD Agence Française de Développement (French Development Agency) AFD A Few Days AFD Articles for Deletion (Wikipedia) AFD Alliance Française des Designers (French: French Designers' Alliance) AFD Advocates for the Disabled[acronyms.thefreedictionary.com]
  • Single transverse palmar crease Very frequently present symptoms in 80-99% of the cases: Abnormality of the palate Brachydactyly Carious teeth Downslanted palpebral fissures Finger syndactyly High forehead Hypoplasia of the zygomatic bone Intellectual disability[dovemed.com]
  • Downward slanting of the opening between the eyelids 0000494 Finger syndactyly 0006101 High forehead 0000348 Hypoplasia of the zygomatic bone Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ] 0010669 Intellectual disability[rarediseases.info.nih.gov]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.com]
Inguinal Hernia
Dental Caries
  • Features: Head And Neck Mandibulofacial Dysostosis With Microcephaly Micrognathia Malar Hypoplasia High Forehead Ears Dysplastic Ears And Preauricular Fistulae Eyes Sparse Eyebrows Mouth And Oral Structures Highly Arched Palate And Dental Caries Abdomen[neo-genetics.com]
  • caries Webbed neck Brachydactyly Short fifth finger Clinodactyly of fifth finger Short thumb Interdigital webbing Single palmar crease Cryptorchidism Hypospadias Inguinal hernia Spina bifida occulta Opitz et al. (1993) Wulfsberg et al. (1996) Proposita[docksci.com]
Dental Caries
  • Features: Head And Neck Mandibulofacial Dysostosis With Microcephaly Micrognathia Malar Hypoplasia High Forehead Ears Dysplastic Ears And Preauricular Fistulae Eyes Sparse Eyebrows Mouth And Oral Structures Highly Arched Palate And Dental Caries Abdomen[neo-genetics.com]
  • caries Webbed neck Brachydactyly Short fifth finger Clinodactyly of fifth finger Short thumb Interdigital webbing Single palmar crease Cryptorchidism Hypospadias Inguinal hernia Spina bifida occulta Opitz et al. (1993) Wulfsberg et al. (1996) Proposita[docksci.com]
Low-Set Posteriorly Rotated Ears
  • , posteriorly rotated ears Preauricular pit Occasionally present symptoms in 5-29% of the cases: Clinodactyly of the 5th finger Coarse hair Facial cleft Hypospadias Inguinal hernia Pectus excavatum Premature birth Reduced number of teeth Spina bifida[dovemed.com]
  • , posteriorly rotated ears 0000368 Preauricular pit Pit in front of the ear 0004467 5%-29% of people have these symptoms Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Coarse hair Coarse hair texture 0002208 Facial cleft[rarediseases.info.nih.gov]
Brachydactyly
  • […] acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly[malacards.org]
  • The signs and symptoms of Acrofacial Dysostosis, Catania type may include: Widow's peak Single transverse palmar crease Very frequently present symptoms in 80-99% of the cases: Abnormality of the palate Brachydactyly Carious teeth Downslanted palpebral[dovemed.com]
  • Showing of 36 80%-99% of people have these symptoms Abnormal palate morphology Abnormality of the palate Abnormality of the roof of the mouth [ more ] 0000174 Brachydactyly Short fingers or toes 0001156 Carious teeth Dental cavities Tooth cavities Tooth[rarediseases.info.nih.gov]
Small Hand
  • hand Disproportionately small hands 0200055 Smooth philtrum 0000319 30%-79% of people have these symptoms Abnormal hair pattern Abnormal distribution of hair 0010720 Bilateral single transverse palmar creases 0007598 Cryptorchidism Undescended testes[rarediseases.info.nih.gov]
  • hand Smooth philtrum Frequently present symptoms in 30-79% of the cases: Abnormal hair pattern Bilateral single transverse palmar creases Cryptorchidism Delayed skeletal maturation Feeding difficulties in infancy Intrauterine growth retardation Low-set[dovemed.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Smooth philtrum 0000319 30%-79% of people have these symptoms Abnormal hair pattern Abnormal distribution of hair 0010720 Bilateral single transverse palmar[rarediseases.info.nih.gov]
Small Head
  • […] disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small[rarediseases.info.nih.gov]
Short Hands
  • Additional abnormalities include growth retardation and short stature, microcephaly, widow's peak, short hands, simian creases, interdigital webbing, hypospadias, cryptorchidism, inguinal hernia, and spina bifida.[neo-genetics.com]
  • hands and feet, joint limitations, and skin thickening.[mendelian.co]
High Forehead
  • forehead Hypoplasia of the zygomatic bone Intellectual disability, mild Microcephaly Microretrognathia Short nose Short palm Small hand Smooth philtrum Frequently present symptoms in 30-79% of the cases: Abnormal hair pattern Bilateral single transverse[dovemed.com]
  • […] more ] 0000174 Brachydactyly Short fingers or toes 0001156 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Finger syndactyly 0006101 High[rarediseases.info.nih.gov]
Shortened Nose
  • nose [ more ] 0003196 Short palm 0004279 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Smooth philtrum 0000319 30%-79% of people have these symptoms Abnormal hair pattern Abnormal[rarediseases.info.nih.gov]
Cryptorchidism
  • (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism[malacards.org]
  • […] postnatal short stature, microcephaly, widow's peak, and mandibulofacial dysostosis without cleft palate Also, frequent caries, mild pre- and post- axial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism[dovemed.com]
  • Name Acrofacial Dysostosis, Catania Type Synonyms AFD, CATANIA TYPE Classification bone, developmental, genetic, neurological Phenotypes Autosomal dominant inheritance ; Carious teeth ; Cryptorchidism ; Hypospadias ; Intrauterine growth retardation ;[mousephenotype.org]

Workup

  • Clinical Testing and Workup Specialized x-ray studies will confirm the presence and/or extent of certain observed craniofacial abnormalities.[rarediseases.org]
Delayed Bone Age
  • Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[mendelian.co]

Treatment

  • The complications of Acrofacial Dysostosis, Catania type may include: Facial deformities Infertility Decreased quality of life Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Acrofacial Dysostosis, Catania type is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms[dovemed.com]
  • Prognosis - Acrofacial dysostosis Catania form Not supplied. Treatment - Acrofacial dysostosis Catania form Not supplied. Resources - Acrofacial dysostosis Catania form[checkorphan.org]
  • Prognosis If the Hirschsprung’s disease is treated in time, ABCD sufferers live otherwise healthy lives. If it is not found soon enough, death often occurs in infancy.[senyawa-kimia.blogspot.com]
  • The overall prognosis of Nager AFD is good and after infancy most patients are healthy and presumed to have normal life span.[jofs.in]

Etiology

  • Agents and ChemoTherapy 56(9): 4662-4670, 2013 Broadening the Spectrum of beta-Lactam Antibiotics through Inhibition of Signal Peptidase Type I . 2012 Flock worker's lung: broadening the spectrum of clinicopathology, narrowing the spectrum of suspected etiologies[m.eurekamag.com]
  • Journal Am J Med Genet 47:660-78 (1993) DOI: 10.1002/ajmg.1320470517 Reference PMID: 24123981 Authors Trainor PA, Andrews BT Title Facial dysostoses: Etiology, pathogenesis and management.[kegg.jp]
  • 雑誌 Am J Med Genet 47:660-78 (1993) DOI: 10.1002/ajmg.1320470517 文献 PMID: 24123981 著者 Trainor PA, Andrews BT タイトル Facial dysostoses: Etiology, pathogenesis and management.[genome.jp]
  • The AFD syndromes are an etiologically heterogeneous group of disorders with undefined classification and inheritance.[redorbit.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.es]
  • We discuss here the potential mechanisms by which phenobarbital and other anti-epileptic drugs can cause aplastic anemia and review the literature for previous case reports and epidemiological studies. 2008 S.[karger.com]
  • In consider of the potentially prejudicial effect of plasma 15-F2t isoPs--in special, vascular lesions--the investigators make an indecent that fructose consumption in type-2 diabetes patients should be reconsidered.19 Much affirmation from epidemiologic[nhha.org]
Sex distribution
Age distribution

Prevention

  • Prevention - Acrofacial dysostosis Catania form Not supplied. Diagnosis - Acrofacial dysostosis Catania form Mandibulofacial dysostosis, Treacher-Collins syndrome.[checkorphan.org]
  • Physical therapy can help prevent the symptoms from returning. Orthotic devices can help prevent future symptoms, the orthotic device will dig into the edge of the accessory navicular and cause discomfort.[wikivisually.com]
  • Syndromes Woodworkers Unsteady walk Bone marrow biopsy If the skin is broken, take steps to prevent infection. Do not blow on the wound. Rinse the area gently to remove obvious dirt, but do not scrub or probe.[nhha.org]

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