Cleft palate-large ears-small head syndrome
Synonyms: Say-Barber-Hobbs syndrome
Cleft palate-large ears-small head syndrome is a rare genetic syndrome characterized by cleft palate large protruding ears microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age distally tapering fingers hypoplastic distal phalanges proximally placed thumbs fifth finger clinodactyly) Pierre Robin sequence cystic renal dysplasia proximal renal tubular acidosis hypospadias cerebral anomalies on imaging (enlargement of lateral ventricles mild cortical atrophy) seizures hypotonia and developmental delay are also observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
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Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Our Odyssey Inc.
Connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
Jamal’s Helping Hands
Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.
Patient Advocate Foundation
Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.
Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Life Branches NFP Inc
Provide emotional wellness mental health to rare disease patients
Rare Disorders Kenya
Provide a strong common voice to advocate for a rare disease health policy and a better healthcare system that works for those with rare diseases
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Indo US Organization for Rare Diseases (IndoUSrare)
With an initial focus on the Indian diaspora, our mission is to build cross-border collaborations to connect stakeholders of rare diseases in low- and middle-income regions—such as India—with their counterparts & clinical researchers in the US. This allows to improve the diversity of clinical trial participants, accelerates RnD, & improves equitable access to life-saving therapies.
Rare Disease Male Mental Health Support Group
To The purpose of the group is to help break the stigma around male mental health and to encourage to take care of their emotional well being . It provides rare disease patients, caregivers with a safe space to talk about their experiences, get support and listen to other peoples stories . Having a rare disease comes with many added layers which can impact your life such as physical, medical, emotional, relationships and bereavement so it is important to talk about your emotional and mental well-being. Through awareness and education men have come together in this format and despite different rare conditions have found there is more on common with other men through connecting and supporting each other in this way .
Undiagnosed Diseases Network Foundation (UDNF)
The UDNF aims to end the diagnostic and therapeutic odyssey for all through the evolution and expansion of the Undiagnosed Diseases Network.
MarylandRARE (research, advocate, resource & education) is a diverse coalition of rare disease community stakeholders in Maryland. Brought together by lived experience, this coalition of rare disease patients and caregivers, are working to bridge the gap regarding understanding, information, and resources that lead to systemic change at the local, state, and federal levels of government.
Uplifting Athletes Inc.
Inspire the Rare Disease Community with hope through the power of sport.
Inspire Medical Communications, LCC
To advocate, raise awareness, and provide support for those with rare diseases through accurate, informative medical communications and research
All GOD’s Children
To advocate for Children and Families,helping Parents seek assistance and guidance in the journey for their child's Undetermined and Undiagnosed conditions
For a list of clinical trials in this disease area, please click here.