Living with Short stature-craniofacial anomalies-genital hypoplasia syndrome
A rare genetic condition with short height, severe learning challenges, facial differences and underdeveloped genitals.
Understanding Short stature-craniofacial anomalies-genital hypoplasia syndrome
People have severe intellectual disability, short stature, and underdeveloped sex glands (hypogonadism), so puberty may be delayed. Facial features can include a prominent forehead, flat face, widely spaced eyes and a small mouth. Some have a cleft palate. Slender hands and feet are common. Other features can include heart differences, scoliosis, clubfeet, an underactive thyroid and seizures. Signs begin in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Intellectual disability
- Delayed puberty
- Small head (microcephaly)
- Cleft palate
- Long, slender fingers
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD doesn't list a gene. The condition is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: haspeslagh fryns muelenaere syndrome; haspeslagh syndrome; haspeslagh-fryns-muelenaere syndrome; short stature with craniofacial anomalies and genital hypoplasia syndrome
Patient organizations
Rare-disease groups that can help
- 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 Short stature-craniofacial anomalies-genital hypoplasia syndrome.
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