Haspeslagh Fryns Muelenaere syndrome
Overview
A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
Symptoms
* Short stature * Underdeveloped genitals * Mental retardation * Pterygia * Trigonocephaly * Bulging forehead * Flat face * Small jaw * Recessed jaw * Small ears * Missing ears * Wasted muscles * Hypermetropia * Delayed puberty * Low set ears * Long thin fingers * Teeth anomalies * Webbed fingers * Short neck * Small head * Hypothyroidy * Wide set eyes * Congenital heart anomaly * Cleft palate * Retinal blood vessel changes * Prominent forehead
Causes
* Familial short stature * Constitutional delay of growth and puberty * Hypothyroidism * Growth hormone deficiency (GHD) * GH resistance (Laron syndrome) * Congenital hypopituitarism –Secondary to brain tumors o Acquired hypopituitarism –After irradiation, surgery, and chemotherapy for neoplasms –Infectious –Infiltrative –Vascular * Cushing syndrome * Precocious puberty –Tall initially –Final height compromised * Pseudohypoparathyroidism * Rickets * Genetic syndromes –Turner syndrome –Down syndrome –Noonan syndrome –Prader-Willi syndrome * Intrauterine growth retardation –Silver-Russell syndrome * Disorders of bone development –Achondroplasia/hypochondroplasia –Chondrodystrophies * Psychosocial deprivation * Malnutrition * Chronic drug intake –Glucocorticoids –Methylphenidate * Infectious –HIV –Tuberculosis * Congenital heart disease * Gastrointestinal –Celiac disease –Inflammatory bowel disease –Chronic liver disease * Pulmonary –Cystic fibrosis * Chronic renal disease –RTA –Renal failure * Skeletal disorders
Diagnosis
This medical information about signs and symptoms for Haspeslagh Fryns Muelenaere syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Haspeslagh Fryns Muelenaere syndrome signs or Haspeslagh Fryns Muelenaere syndrome symptoms. Furthermore, signs and symptoms of Haspeslagh Fryns Muelenaere syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Haspeslagh Fryns Muelenaere syndrome symptoms.
Treatment
* Treat the underlying condition * Growth hormone therapy –Indicated in GHD and some other forms of short stature (renal failure, Turner syndrome, Prader-Willi syndrome, small-for-gestational age without catch-up growth) –Earlier initiation to optimize final height outcome –Nightly subcutaneous administration of GH at 25–50 µ g/kg/day o Monitor for loss of other pituitary hormones and replace all deficiencies o Monitoring growth hormone therapy –Close follow-up with pediatric endocrinologist every 3–6 months –Monitor side effects of GH treatment –Monitor serum IGF-I and IGFBP-3 levels –Dose adjustments based on IGF values and growth response