Living with Mikati-Najjar-Sahli syndrome
A rare inherited syndrome with a small head, short stature, delayed puberty from low hormone activity, and distinctive facial features.
Understanding Mikati-Najjar-Sahli syndrome
It includes a small head (microcephaly), short stature, and hypergonadotropic hypogonadism, which means the reproductive glands do not work as they should even though the body signals for them to. People also have certain facial features, such as a narrow forehead, joined eyebrows, and a small jaw. Signs are seen in the newborn period or infancy.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Smaller-than-average head size (microcephaly)
- Short stature
- Underactive reproductive glands (hypogonadism)
- Narrow forehead
- Joined eyebrows
- Small lower jaw (micrognathia)
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 genetic specialists, hormone specialists and urinary and male reproductive system 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility 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
- 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 syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: microcephalus, hypergonadotropic hypogonadism, short stature syndrome; microcephaly-hypergonadotropic hypogonadism-short stature syndrome; mikati najjar sahli syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mikati-Najjar-Sahli syndrome.
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