4 free views remaining today
acrofacial dysostosis, Catania type
ICD-10 Codes
Related ICD-10:
Description
Acrofacial Dysostosis, Catania Type: A Rare Congenital Disorder
Acrofacial dysostosis, Catania type is a rare congenital disorder characterized by a combination of physical and developmental abnormalities. The condition is typically identified at birth or in early childhood.
Key Features:
- Intrauterine Growth Retardation (IUGR): Affected individuals often experience mild IUGR during fetal development, leading to short stature postnatally [1][3][6].
- Microcephaly: A significant feature of Catania type acrofacial dysostosis is severe microcephaly, which is accompanied by a high forehead and malar hypoplasia [3][6].
- Intellectual Disability: Individuals with this condition often exhibit intellectual disability, indicating developmental delays or impairments [1][2][4][8].
- Other Physical Abnormalities: Additional physical features may include cleft palate, limb hypoplasia, and simian creases [7].
Important Note:
It is essential to consult medical professionals for accurate diagnosis and management of acrofacial dysostosis, Catania type. The information provided here serves as a general overview and should not be considered a substitute for expert advice.
References:
[1] Context result 1 [2] Context result 8 [3] Context result 6 [4] Context result 8 [5] Context result 9 [6] Context result 3 [7] Context result 7 [8] Context result 8
Additional Characteristics
- Microcephaly
- Cleft palate
- Intellectual Disability
- Intrauterine Growth Retardation (IUGR)
- Limb hypoplasia
- Simian creases
Signs and Symptoms
Common Signs and Symptoms of Acrofacial Dysostosis, Catania Type
Acrofacial dysostosis, Catania type is a rare genetic disorder characterized by distinctive craniofacial malformations. The signs and symptoms of this condition can vary in severity and may include:
- Mild intrauterine growth retardation: This is a common feature of acrofacial dysostosis, Catania type, where the fetus experiences slow growth during pregnancy [2].
- Postnatal short stature: Individuals with this condition often have short stature after birth [3].
- Severe microcephaly: Microcephaly refers to an abnormally small head size. In cases of acrofacial dysostosis, Catania type, the microcephaly is often severe [3].
- Malar hypoplasia: This condition involves underdevelopment or malformation of the cheekbones.
- Micrognathia: Micrognathia refers to an abnormally small lower jawbone.
- Clinodactyly of the 5th finger: Clinodactyly is a curvature of one or more fingers, and in this case, it affects the 5th (little) finger [7].
- Coarse hair: Individuals with acrofacial dysostosis, Catania type may have coarse or thickened hair.
- Facial cleft: A facial cleft is a rare congenital anomaly where there's an abnormal opening in the skin of the face.
- Hypospadias: This condition involves an abnormal urethral opening on the underside of the penis.
- Inguinal hernia: An inguinal hernia occurs when tissue, such as part of the intestine, protrudes through a weak spot in the abdominal muscles.
These signs and symptoms can vary in severity among individuals with acrofacial dysostosis, Catania type. It's essential to consult medical professionals for an accurate diagnosis and treatment plan [7].
References: [1] - Not applicable [2]
Additional Symptoms
- Hypospadias
- Micrognathia
- Inguinal hernia
- Malar hypoplasia
- Severe microcephaly
- Mild intrauterine growth retardation
- Clinodactyly of the 5th finger
- Coarse hair
- Facial cleft
- short stature
Diagnostic Tests
Based on the available information, diagnostic teams for Acrofacial dysostosis, Catania type may include:
- Genetics
- Neurology
- Orthopedics [1]
The diagnosis is based on physical and radiological examination or the identification of a mutation in SF3B4. It's also worth noting that differential diagnosis may be considered to rule out other conditions with similar symptoms.
In terms of specific diagnostic tests, it's not explicitly stated in the available information. However, given the involvement of genetics, neurology, and orthopedics, it's likely that various imaging studies such as X-rays, CT scans, or MRIs may be used to assess the condition.
It's also worth noting that a diagnosis of Acrofacial dysostosis, Catania type is typically made based on clinical evaluation and radiological findings, rather than specific diagnostic tests.
Additional Diagnostic Tests
- X-rays
- CT scans
- MRIs
Treatment
Management and Treatment Options
The management of acrofacial dysostosis, Catania type must focus on addressing the neonatal respiratory distress and feeding difficulties that are commonly associated with this condition [8]. Tracheostomy may be necessary to ensure adequate airway management, while gastrostomy can help alleviate feeding difficulties [8].
While there is no specific drug treatment for acrofacial dysostosis, Catania type, surgical interventions can be considered to repair clefts and other craniofacial abnormalities [8]. However, the effectiveness of these treatments may vary depending on the individual case.
It's essential to note that management must be tailored to the specific needs of each patient, and a multidisciplinary approach involving healthcare professionals from various specialties is often necessary [8].
Current Research and Clinical Trials
As of my knowledge cutoff in 2024, there are no specific clinical trials or studies focused on the drug treatment of acrofacial dysostosis, Catania type. However, researchers continue to explore new treatments and management strategies for this rare condition.
If you're looking for more information on current research or clinical trials related to acrofacial dysostosis, Catania type, I recommend consulting reputable sources such as the National Institutes of Health (NIH) or the Centers for Disease Control and Prevention (CDC).
References
- [8] Management must focus on neonatal respiratory distress (tracheostomy) and feeding difficulties (gastrostomy). Surgery can be considered for repair of clefts, ...
- [10] by EA Wulfsberg · 1996 · Cited by 6 — The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or ...
Recommended Medications
- There is no specific drug treatment for acrofacial dysostosis, Catania type
- Surgical interventions can be considered to repair clefts and other craniofacial abnormalities
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Acrofacial dysostosis, also known as Nager syndrome or preaxial acrofacial dysostosis, is a rare genetic disorder characterized by distinctive craniofacial malformations and limb abnormalities. When considering the differential diagnosis for this condition, several other syndromes should be taken into account.
- Treacher-Collins Syndrome (TCS): This syndrome is often considered in the differential diagnosis for Nager syndrome due to its similar craniofacial features, such as micrognathia and ear anomalies. However, TCS typically does not involve limb abnormalities on the thumb (radial) side of the hand [5].
- Mandibulofacial dysostosis syndromes: These syndromes, including Treacher-Collins syndrome, are characterized by mandibular hypoplasia and ear anomalies. However, they do not typically involve limb abnormalities on the thumb (radial) side of the hand [3].
- Other acrofacial dysostoses (AFD): AFD is a heterogeneous group of disorders combining mandibulofacial dysostosis with limb defects. The differential diagnosis for Nager syndrome may include other forms of AFD, such as postaxial acrofacial dysostosis (Miller syndrome) [6].
- Ellis-van Creveld syndrome: This syndrome is characterized by digital dysplasia, downslanted palpebral fissures, deafness, and developmental delay. While it shares some features with Nager syndrome, the limb abnormalities are typically postaxial rather than preaxial [8].
In summary, when considering the differential diagnosis for acrofacial dysostosis, Catania type (Nager syndrome), several other syndromes should be taken into account due to their similar craniofacial and limb features. These include Treacher-Collins Syndrome, mandibulofacial dysostosis syndromes, other forms of acrofacial dysostoses, and Ellis-van Creveld syndrome.
References: [3] - Context 3 [5] - Context 5 [6] - Context 6 [8] - Context 8
Additional Differential Diagnoses
- Nager syndrome
- Mandibulofacial dysostosis syndromes
- Other acrofacial dysostoses (AFD)
- N syndrome
- Ellis-Van Creveld syndrome
Additional Information
- relatedICD
- http://example.org/icd10/S00.04
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-09-21T15:34:09Z
- oboInOwl#id
- DOID:0060384
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- UMLS_CUI:C2931762
- IAO_0000115
- An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
- oboInOwl#hasExactSynonym
- Opitz-Caltabiano syndrome
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- core#notation
- DOID:0060384
- rdf-schema#label
- acrofacial dysostosis, Catania type
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060379
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1410
- owl#annotatedSource
- t341080
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.