research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
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150-180 / 1000+ results research (16) The Graham-Little syndrome Follicular keratosis with cicatricial alopecia
Graham-Little syndrome causes scarring hair loss and skin bumps.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Brandt Syndrome
Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Graft versus host disease–like: A new paraneoplastic syndrome
A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.