Presentation
Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.[2] Diagnosis[edit] This section is empty. You can help by adding to it. (August 2017) Treatment[edit] This section is empty. [en.wikipedia.org]
Entire Body System
- Developmental Delay
Symptoms of Bagatelle Cassidy syndrome include a large head, widely spaced eyes, hearing loss, short limbs, and developmental delay. Talk with your doctor to find the best treatment if your child has been diagnosed with Bagatelle Cassidy syndrome. [globalgenes.org]
Preferred Name Bagatelle Cassidy syndrome Synonyms Macrocephaly short limbs deafness ID http://purl.bioontology.org/ontology/MESH/C537796 altLabel Macrocephaly short limbs deafness Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental [bioportal.bioontology.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Macrocephaly short limbs deafness, Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay See more Don’t fight Bagatelle Cassidy [rareguru.com]
References Bagatelle R, Cassidy SB: New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay. Am J Med Genet 55:367, 1995. [PubMed: 7537019] [accesspediatrics.mhmedical.com]
delay-contractures syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-spasticity-ectrodactyly syndrome Intermediate congenital [rarediseases.info.nih.gov]
- Short Stature
At a glance It is a rare medical condition characterized by the association of macrocephaly, hypertelorism, short stature with relatively short limbs, and hearing loss. [accesspediatrics.mhmedical.com]
stature syndrome, Brussels type Short stature wormian bones dextrocardia Short stature-craniofacial anomalies-genital hypoplasia syndrome SHORT syndrome Short-chain acyl-CoA dehydrogenase deficiency Short-limb skeletal dysplasia with severe combined [rarediseases.info.nih.gov]
Cardiovascular
- Heart Disease
Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. [books.google.de]
Eyes
- Blepharoptosis
[…] aortic anomaly Blepharoptosis cleft palate ectrodactyly dental anomalies Blepharoptosis myopia ectopia lentis Blepharospasm Blethen Wenick Hawkins syndrome Blo-Blu Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood [bionity.com]
Christian Gorlin syndrome Bjornstad syndrome Blau syndrome Bleeding disorder due to P2RY12 defect Blepharonasofacial malformation syndrome Blepharophimosis with ptosis, syndactyly, and short stature Blepharophimosis-epicanthus inversus-ptosis syndrome Blepharoptosis [rarediseases.info.nih.gov]
Ears
- Low Set Ears
"New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies". [en.wikipedia.org]
Musculoskeletal
- Macrocephaly
Preferred Name Bagatelle Cassidy syndrome Synonyms Macrocephaly short limbs deafness ID http://purl.bioontology.org/ontology/MESH/C537796 altLabel Macrocephaly short limbs deafness Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental [bioportal.bioontology.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Macrocephaly short limbs deafness, Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay See more Don’t fight Bagatelle Cassidy [rareguru.com]
At a glance It is a rare medical condition characterized by the association of macrocephaly, hypertelorism, short stature with relatively short limbs, and hearing loss. [accesspediatrics.mhmedical.com]
benign familial Macrocephaly-short stature-paraplegia syndrome Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Macroglossia Macrosomia with lethal microphthalmia Macrozoospermia [rarediseases.info.nih.gov]
- Genu Valgum
Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.[2] Diagnosis[edit] This section is empty. You can help by adding to it. (August 2017) Treatment[edit] This section is empty. [en.wikipedia.org]
valgum, st Helena familial Genuine diffuse phlebectasia Geroderma osteodysplastica Gerstmann-Straussler-Scheinker disease Gestational trophoblastic tumor Ghosal hematodiaphyseal dysplasia syndrome Ghose Sachdev Kumar syndrome Giant axonal neuropathy [rarediseases.info.nih.gov]
Skin
- Alopecia
Support Organizations Children’s Alopecia Project, Inc. General Support Organization Retina UK General Support Organization PID UK General Support Organization [globalgenes.org]
[…] epilepsy oligophrenia syndrome of Moynahan Alopecia intellectual disability syndrome 2 Alopecia totalis Alopecia universalis Alopecia universalis onychodystrophy vitiligo Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia-contractures-dwarfism-intellectual [rarediseases.info.nih.gov]
Face, Head & Neck
- Hypertelorism
At a glance It is a rare medical condition characterized by the association of macrocephaly, hypertelorism, short stature with relatively short limbs, and hearing loss. [accesspediatrics.mhmedical.com]
Preferred Name Bagatelle Cassidy syndrome Synonyms Macrocephaly short limbs deafness ID http://purl.bioontology.org/ontology/MESH/C537796 altLabel Macrocephaly short limbs deafness Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental [bioportal.bioontology.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Macrocephaly short limbs deafness, Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay See more Don’t fight Bagatelle Cassidy [rareguru.com]
"New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies". [en.wikipedia.org]
[…] to S-adenosylhomocysteine hydrolase deficiency Hypermobile Ehlers-Danlos syndrome Hyperostosis corticalis generalisata Hyperparathyroidism-jaw tumor syndrome Hyperphenylalaninemia due to dehydratase deficiency Hyperprolinemia Hyperprolinemia type 2 Hypertelorism [rarediseases.info.nih.gov]
- Short Nose
Other clinical features include sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, short nose with a broad flat bridge, anteverted nares, and delayed psychomotor development. [accesspediatrics.mhmedical.com]
- Broad Nasal Bridge
nasal bridge, malar hypoplasia, a thin upper lip, a smooth philtrum, and low-set, prominent ears. [en.wikipedia.org]
Workup
Genetic inheritance The chromosomal and metabolic workups were normal. [accesspediatrics.mhmedical.com]
Treatment
Specialists may also be involved in developing a treatment and management plan. [rarediseases.info.nih.gov]
Talk with your doctor to find the best treatment if your child has been diagnosed with Bagatelle Cassidy syndrome. Support Organizations Children’s Alopecia Project, Inc. [globalgenes.org]
(August 2017) Treatment[edit] This section is empty. You can help by adding to it. (August 2017) References[edit] ^ "Seaver Cassidy syndrome". Check Orphan. Archived from the original on 2013-04-14. [en.wikipedia.org]
Prevention
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]