Living with Brachytelephalangy-dysmorphism-Kallmann syndrome
A rare genetic syndrome with short fingertip bones, distinct face, and possibly loss of smell and delayed puberty.
Understanding Brachytelephalangy-dysmorphism-Kallmann syndrome
Features include a prominent square forehead, widely spaced inner eye corners, a small nose, flat cheekbones, a thin upper lip, and shorter height than relatives. It can come with loss of smell (anosmia) and low sex hormone function (hypogonadotropic hypogonadism), known as Kallmann syndrome. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short fingers and fingertip bones
- Short or missing toenails
- Loss of smell (anosmia)
- Low sex hormone function (hypogonadism)
- Broad forehead and short nose
- Widely spaced inner eye corners
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 bone and joint specialists, genetic specialists, hormone specialists and maternal-fetal medicine 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- 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 cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: brachytelephalangy with characteristic facies and kallmann syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Brachytelephalangy-dysmorphism-Kallmann syndrome.
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