The association of cutaneous hyperpigmented, hypertrichotic, and indurated patches associated with hearing loss, short stature, cardiac anomalies, hepatosplenomegaly, scrotal masses, and hypogonadism has not, to our knowledge, been previously recognized [ncbi.nlm.nih.gov]

If these are lacking, the constellation of additional findings such as hearing loss, fixed flexion contractures of fingers and toes, short stature and hepatosplenomegaly should raise suspicion for H syndrome. [orpha.net]

[…] patient had insulin-dependent diabetes, congenital deafness, short stature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever [ncbi.nlm.nih.gov]

SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. [uniprot.org]

Flu-like symptoms are also usually present during the initial stages, and may include: feeling generally unwell a high temperature (fever) of 38C (100.4F) or above a headache joint pain a cough After a few days a rash appears, which consists of individual [nhs.uk]

Heerfordt syndrome, also known as Heerfordt-Waldenström syndrome or uveoparotid fever, is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown [radiopaedia.org]

[…] diarrhea diabetes, periodic fever, recurrent fever, periodic fevers, recurrent fevers, hyperpigmentation, hypertrichosis, varicose veins, Psychomotor impairment, delay,developmental delay, mental impairment, mental delay, cognitive delay, retardation [autoinflammatory-search.org]

Cardiac defects,heart defects, cardiac, heart, atrial septal defect, ventricular septal defect, patent ductus arteriosis, hole in heart, ASD, VSD, PDA, mitral valve prolapse, cardiomegaly, diabetes mellitus, diabetes, hepatosplenomegaly, hepatomegaly, splenomegaly [autoinflammatory-search.org]

If these are lacking, the constellation of additional findings such as hearing loss, fixed flexion contractures of fingers and toes, short stature and hepatosplenomegaly should raise suspicion for H syndrome. [orpha.net]

It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. [ncbi.nlm.nih.gov]

Cutaneous histopathologic examination showed hyperpigmentation of the basal layer with seborrheic-keratosis-like acanthosis, histiocytic infiltration, and a perivascular mononuclear infiltrate with plasma cells and mast cells throughout the dermis and [ncbi.nlm.nih.gov]

On clinical examination, she had hepatosplenomegaly, generalized lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss, hypogonadism, short stature, and characteristic dysmorphic features. [ncbi.nlm.nih.gov]