Living with Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
A rare condition seen from birth with a very small head, hearing loss, distinctive facial features, and delayed puberty.
Understanding Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Babies have a very small head (microcephaly) from birth, distinctive facial features, deafness in both ears, and low sex hormones. They also have early feeding problems, nearsightedness, moderate intellectual disability, and moderate short height. It may be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Hearing loss from birth
- Delayed puberty
- Global developmental delay
- Feeding difficulties
- Nearsightedness (myopia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome; hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome; hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
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