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Adams Oliver Syndrome
Rare but devastating...
What is it?
Adams-Oliver syndrome is a rare condition characterized by the association of congenital limb abnormalities and scalp abnormalities, often accompanied by skull ossification defects.
The prevalence is unknown. The severity of the syndrome varies considerably from patient to patient.
Congenital cutaneous aplasia, transverse limb abnormalities, and cutis marmorata telangiectasia are characteristic of the disease.
Affected individuals typically have malformations of the hands, arms, feet and/or legs, and sometimes present an intellectual deficit. Adams-Oliver syndrome may be associated with various anomalies such as congenital cataract, strabismus and microphthalmia, congenital heart defects (including tetralogy of Fallot and pulmonary atresia), and hepatoportal sclerosis.
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Hydrocephalus is the main cerebral anomaly, epilepsy may be associated.
Lethal forms exist. The etiopathogenesis remains undetermined.
Most cases are transmitted autosomal dominantly but autosomal recessive inheritance with familial or sporadic occurrence is possible.
Abnormalities of the limbs and skull require orthopedic treatment.
Care must be multidisciplinary.
Source Orphanet - The Rare Diseases Portal.
ASSOCIATED DISEASES
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Although Adams Oliver syndrome is characterized by the association of anomalies and these vary greatly from one patient to another, here is a list of some of these diseases.
Congenital malformation
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A congenital malformation is present at birth without being hereditary or genetic. Major malformations cause serious disability or death, while minor malformations, such as brachymetatarsia, have no serious consequences.
Cutis Marmorata
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Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disease of the newborn, with approximately 300 published cases. Its etiopathogenesis is unknown and it may be associated with Adams-Oliver syndrome. The clinical diagnosis reveals a purple vascular network, atrophic in places, with depressions and sometimes ulcerations. CMTC is usually detected at birth, rarely in the first months of life.
Circumscribed cutaneous aplasia of the scalp
Circumscribed cutaneous vertex aplasia (CCVA) is a rare defect of the scalp and/or cranial vault, with lesions of varying severity. Its prevalence at birth is less than 1 case in 5,000. It is manifested by a well-defined absence of skin on the scalp, ranging from 1 cm² to 10 cm in diameter, which can also affect the skull and dura mater.
Hepatoportal sclerosis:
the mask of cirrhosis
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Macroscopically, the liver is often large and "dysmorphic" with hyperplastic or nodular areas and others atrophic and hard. We can observe a portal trunk or large thick-walled portal vessels. Portal vessel damage and nodulation predominate in perihilar regions, while subcapsular areas may appear normal.
Hydrocephalus
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Hydrocephalus is a serious neurological abnormality characterized by the increase in the spaces containing cerebrospinal fluid (CSF): cerebral ventricles and subarachnoid space. This dilatation may result from hypersecretion of CSF, a failure of resorption or a mechanical obstruction. In consanguineous families, it is 13 times more common.
There is benign hydrocephalus in infants, with bulging fontanels, which disappears spontaneously within a few hours and is often linked to an overdose of vitamins A and D.
In adults, hydrocephalus manifests itself as visual disturbances, headaches, hearing problems, endocrine imbalance, brain pain, walking imbalance and urinary incontinence.
Congenital Catarate, Microphthalmia and/or Strabismus..
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Congenital Cataract:
Congenital cataract is a clouding of the lens present from birth or shortly after, causing blurred vision. The denser the opacification, the poorer the vision.
Microphthalmia:
Microphthalmia is a congenital reduction of the eyeball, often affecting binocular vision. It is rare in France (1 in 10,000 to 1 in 100,000 births) and can be unilateral or bilateral, isolated or syndromic.
Strabismus:
Strabismus is a lack of parallelism of the visual axes, disrupting the sensory and motor correspondence of the eyes.
MEDICAL AND SCIENTIFIC ADVICE
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Based on our personal experience with Noah and the difficulty we had in finding experts knowledgeable about this rare disease, you will find below a list of doctors who can help families who may also be affected by Adams Oliver syndrome.
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Doctors in FRANCE
Dr G.BAUJAT - Genetics Department - Necker-Enfants Malades University Hospital - Paris 15
Dr GALLIANI - Maxillofacial Surgery - Trousseau University Hospital transferred to Necker
Dr M. GIRARD - Hepatology Department - Necker-Enfants Malades University Hospital - Paris 15
Dr V. Cormier-Daire - Medical and experimental genetics - CHU Necker - Paris 15
Doctors IN USA
David A. Staffenberg, MD - Specialties: Pediatric Plastic Surgery, Cosmetic Plastic Surgery, Plastic Surgery - NYU Langone Medical Center - New York - USA
Adam S. Jacobson, MD - Head & Neck Surgery, Surgical Oncology - NYU Langone Medical Center - New York - USA
Jamie P. Levine, MD - Microsurgery, Breast Plastic Surgery, Plastic Surgery - NYU Langone Medical Center - New York - USA
David Zagzag, MD - Anatomic Pathology, Neuropathology - NYU Langone Medical Center - New York - USA
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The Association finances the first genetic research in France on Adams Oliver Syndrome
with the IMAGINE INSTITUTE - PARIS NECKER
On March 26, 2014, our Association “UN MIRACLE POUR NOAH” decided to establish a collaboration with the team:
INSERM UMR 1163 / INSTITUT IMAGINE
“Molecular and pathophysiological bases of chondrodysplasia” team
Team Leader: Pr. Valerie Cormier -Daire
24 Boulevard du Montparnasse
75015 Paris - FRANCE
The aim of this collaboration is to identify the molecular bases of a group of people carrying Adams Oliver syndrome, participating in our association and wishing to participate in this project.
To this end, our association made a donation of €20,000 to this INSERM team, in order to enable this project to be carried out.
This donation is intended for molecular studies (planned strategy: Exome) of people carrying OSA and for whom a DNA sample has been stored in recent years at Necker Hospital.
We are in close contact with Professor Cormier-Daire and Dr. Baujat to monitor the progress of this project.
2 years later... The first discoveries
Paris, June 9, 2016
Thanks to the “Un Miracle pour Noah” association, molecular studies were carried out on 20 families as part of a preliminary study.
Six main genes, involved in two major cellular pathways, were identified as altered, particularly concerning the mobility of the cytoskeleton via the actin network.
These studies confirm the two modes of inheritance of OSA: autosomal dominant and recessive, as well as intra-familial expression variability.
Minor skin signs have been observed in heterozygous carriers of certain recessive forms.
The INSERM team wishes to continue this research with new families, French or foreign.
To participate, you must provide clinical information, photos of visible signs, and if possible x-rays and medical reports. Blood samples from the carrier child, both parents and possibly other children will be requested. Families must have consulted at least once in the large network of the MOC reference center.
For more information, contact the association to be put in touch with Professor Cormier-Daire and Dr. Baujat, responsible for the study.
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Research around the world
Scientists discover a gene responsible for Adams-Oliver Syndrome - May 2011 -
Scientists at King's College London have discovered for the first time a gene responsible for Adams-Oliver syndrome (OSA), a condition causing birth defects of the heart, limbs and blood vessels.
The study, published in The American Journal of Human Genetics, offers insight into possible genetic causes of these abnormalities common in the general population.
Led by the National Institute for Health Research at King's College London and Guy's and St Thomas', the team hopes these findings will improve the treatment of affected children and help prevent these defects in the future.
OSA is a rare disease affecting fewer than 150 families worldwide, but malformations observed in affected babies are relatively common, such as heart malformations which affect 9 out of 1000 babies.
Researchers discovered mutations in the ARHGAP31 gene, regulating proteins crucial for cell division, growth and movement, by examining gene trends and variations in affected families.