acrocardiofacial syndrome

Acro-cardio-facial Syndrome (ACFS): A Rare Genetic Disorder

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by a combination of physical abnormalities, including split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), and genital abnormalities [1][2]. This condition affects various parts of the body, making it a complex and multifaceted disorder.

Key Features:

• Split-hand/split-foot malformation (SHFM): A rare birth defect where the hands or feet are partially or completely separated [3].
• Facial anomalies: High forehead, hypertelorism (increased distance between the eyes), broad and flat nasal bridge, broad nasal tip, and other facial abnormalities [6].
• Cleft lip/palate: A congenital condition where there is a gap in the upper lip or palate [4][5].
• Congenital heart defect (CHD): Abnormalities in the structure of the heart that are present at birth [7][8].

Prevalence and Diagnosis:

ACFS is an extremely rare genetic disorder, with only a few reported cases worldwide. The exact prevalence is unknown due to its rarity. Diagnosis typically involves a combination of clinical evaluation, imaging studies (e.g., X-rays, CT scans), and genetic testing to confirm the presence of ACFS [9].

References:

[1] MC Digilio · 2010 · Cited by 13 — Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, ...

[2] A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital ...

[3] by MC Digilio · 2010 · Cited by 13 — Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, ...

[4] Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate ...

[5] Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate ...

[6] by B Toschi · 2012 · Cited by 20 — In general, the facial phenotype of ACFS patients consists of a high forehead, hypertelorism, broad and flat nasal bridge, broad nasal tip, and ...

[7] Nov 2, 2021 — Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, ...

[8] Oct 22, 2024 — Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, ...

[9] Acro-cardio-facial syndrome is a rare genetic disorder characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, ...

Based on the provided context, here are the signs and symptoms of velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome:

Distinctive Facial Features

• Underdeveloped chin [1]
• Ears that look different [1]
• Wide-set eyes [1]
• Hooded eyes [4,5]
• Enlarged nose tip [1]

Other Common Signs and Symptoms

• Heart problems (approximately 75% of people with VCFS will have a heart defect) [8]
• Low muscular tone
• Speech difficulties
• Middle ear infections or hearing loss
• Vision problems
• Cleft palate [3,5,9]
• Abnormalities of the heart [9]

Additional Symptoms

• Developmental delays and learning disabilities (about 65% of individuals with VCFS) [2]
• Seizures
• A child's eyes, nose, or ears may look different [7]
• Long face with prominent upper jaw [6]
• Underdeveloped lower jaw [6]
• Low-set ears [6]
• Prominent nose with narrow nasal passages [6]
• Thin upper lip [6]

Please note that symptoms can vary widely and not all individuals with VCFS will exhibit all of these signs.

Diagnostic Tests for Acro-cardio-facial Syndrome (ACFS)

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation, facial anomalies, and cleft lip/palate. Diagnostic tests play a crucial role in identifying this condition.

• Clinical Evaluation: The diagnosis of ACFS is primarily based on clinical criteria, as the genetic mechanism underlying the syndrome is still unknown [4]. A thorough evaluation of the patient's medical history, physical examination, and imaging studies is essential to rule out other conditions that may present with similar symptoms.
• Imaging Studies: Imaging tests such as X-rays, CT scans, or MRI can help identify congenital heart disease (CHD), split hand/foot malformations, and other associated anomalies [7].
• Genetic Testing: While the genetic mechanism of ACFS is unknown, genetic testing may be considered to rule out other genetic conditions that may present with similar symptoms. However, this should be done on a case-by-case basis and in consultation with a genetic counselor.
• Prenatal Diagnosis: Prenatal diagnosis can be performed using molecular genetic techniques such as chorionic villus sampling (CVS) or amniocentesis to detect chromosomal abnormalities [8].

Differential Diagnosis

It is essential to consider the differential diagnosis of ACFS, which includes conditions such as:

• Oculo-cerebro-acral syndrome
• Focal dermal hypoplasia
• Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (ECC syndrome) [6]

References

[4] Oct 22, 2024 - The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. [7] by D Milani · 2016 · Cited by 9 — Acro-cardio-facial syndrome (ACFS, OMIM #600460) is a condition characterized by congenital heart disease (CHD), split hand/foot malformations (... [6] by G Bailess · 2022 · Cited by 1 — For example, the lip and palate should be carefully evaluated as ECC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) is the ... [8] Oct 22, 2024 — ... tests, presymptomatic and predictive tests, prenatal diagnosis, and preimplantation genetic diagnosis (PGD). Molecular genetic techniques ...

Treatment Overview

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder that requires comprehensive management to address its various symptoms. While there is no specific "drug treatment" for ACFS, the condition's cardiac, respiratory, and feeding problems can be managed with medications and therapies.

• Cardiac Problems: Cardiac issues in ACFS patients may require treatment by specialists, including neonatal pediatricians (1, 4, 6). Medications such as beta blockers or other cardiovascular medications might be prescribed to manage heart-related symptoms.
• Respiratory Problems: Respiratory difficulties can also be treated by specialists, and medications like bronchodilators or corticosteroids may be used to alleviate breathing issues (2).
• Feeding Problems: Feeding problems in ACFS patients often require consultation with a nutrition specialist. Medications such as anti-nausea drugs might be prescribed to manage feeding-related symptoms (2).

Additional Therapies

In addition to medication, physical therapy is an essential aspect of managing ACFS. Babies manifesting hypotonia/hypertonia and motor skill difficulties can benefit from early physical therapy in the first months of life (1, 5). This can help improve muscle tone and overall mobility.

Prognosis and Treatment

The prognosis for patients with ACFS varies depending on the severity of their symptoms. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists (4, 6, 9). The goal is to enhance the health and quality of life for these individuals.

References

• [1] MC Digilio · 2010 · Cited by 13 — The surviving patients will benefit from physical therapy...
• [2] Cardiac and respiratory problems should be treated by specialists. A nutrition specialist should be consulted for feeding problems.
• [4] Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists...
• [5] The surviving patients will benefit from physical therapy, which should start in the first months of life in babies manifesting hypotonia/...
• [6] Oct 22, 2024 — Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists...
• [9] by MC Digilio · 2010 · Cited by 13 — Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other...

The differential diagnosis for acrocardiofacial syndrome (ACFS) includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects [1][2][3][4][5][6][7][8][9][10]. These conditions can be ruled out based on the specific characteristics of ACFS, such as the presence of facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation [11].

Some of the conditions that are part of the differential diagnosis for ACFS include:

• Ectrodactyly syndromes
• Clefting conditions associated with genital anomalies and heart defects
• CHARGE syndrome
• Oculo-cerebro-acral syndrome
• Focal dermal hypoplasia
• Ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome
• Rapp-Hodgkin syndrome

It's worth noting that the differential diagnosis for ACFS is complex and requires a thorough evaluation of the individual's symptoms and medical history. A healthcare professional should be consulted to determine the correct diagnosis and develop an appropriate treatment plan.

References:

[1] The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families [2].

[2] The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects [3].

[3] Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with [4].

[4] The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects [5].

[5] CHARGE syndrome can also be included among conditions in differential diagnosis, since SHFS can be found and ears can be similar in both ACFS and CHARGE syndrome [6].

[6] Differential diagnosis includes other ectrodactyly syndromes and clefting conditions associated with genital anomalies. However, EEC syndrome, Rapp-Hodgkin syndrome (see these terms) and ectrodactyly-cleft lip/palate-hand/foot deformities-intellectual deficit can be ruled out based on lack of ectodermal involvement [7].

[7] When Do Symptoms of Acrocardiofacial syndrome Begin? ... Acrocardiofacial syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing [8].

[8] People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot [9].

[9] Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation ... The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects [10].