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Living with Femoral hypoplasia - unusual facies syndrome

A rare condition with underdeveloped thigh bones and distinctive facial features, present from birth.

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Understanding Femoral hypoplasia - unusual facies syndrome

Femoral hypoplasia - unusual facies syndrome (femoral facial syndrome) is a rare condition with underdeveloped thigh bones and distinctive facial features.

Facial features may include upward-slanting eyes, a short nose with a broad tip, a long space between the nose and upper lip, a thin upper lip, a small lower jaw, and cleft palate. Other features may include spine, ear, kidney, or lung differences and extra fingers or toes. Intellectual development is typically normal.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Short or underdeveloped thigh bone
  • Small lower jaw (micrognathia)
  • Cleft palate
  • Short nose and long philtrum
  • Club feet
  • Short stature

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    World Craniofacial Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
Expert care
Expert lists: World Craniofacial Foundation
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 World Craniofacial Foundation 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
Bring these questions to your next doctor visit
Which specialists should follow bone, jaw and kidney health?
What options exist to treat limb differences?
What is the chance this could happen again in our family?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn

The cause is usually not known, though genetic factors are thought to play a role. One case was linked to a chromosome change, and some cases to diabetes in the mother during pregnancy.

Genetic

Also known as: femoral facial syndrome; femoral hypoplasia-unusual facies syndrome; femoral-facial syndrome; ffs; fhufs

Patient organizations

Source: NIH GARD · Femoral hypoplasia - unusual facies syndromeGARD ID 61 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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