What is a phocomelia?

Phocomelia is a rare birth defect where limbs are severely shortened, with hands or feet appearing to attach directly to the trunk, resembling a seal's flippers, hence the name (Greek for "seal limb"). It results from the absence or underdevelopment of middle limb segments (like the humerus, radius, femur, or tibia) and can also involve other defects in the eyes, ears, nose, or genitals, often caused by genetics or exposure to the drug thalidomide during pregnancy.

What causes phocomelia syndrome?

Phocomelia is a rare congenital anomaly where the proximal aspect of an extremity is absent with the hand or foot attached directly to the trunk. This disorder was brought into prominence as a characteristic side effect of the drug thalidomide but can occur spontaneously.

What does phocomelia look like?

Fingers and toes are typically fused together, which causes a flipper-like appearance of the limbs. While the most common symptom of phocomelia is the deformation of the limbs, defects of the eyes, nose, and ears may also be present. Growth and mental deficits are also typically seen in people with phocomelia.

What is the rarest birth defect?

There isn't one single "rarest" birth defect, as rarity varies, but conditions like Sirenomelia (Mermaid Syndrome), where legs fuse, Cyclopia, resulting in a single eye, and extreme forms of Holoprosencephaly (like alobar type) are among the most exceptionally rare, often with very low incidence rates and severe outcomes, though other highly infrequent disorders include Schizencephaly (brain clefts) and certain genetic syndromes like Smith-Lemli-Opitz or Progeria. 

Is phocomelia fatal?

Shortly after the drug was sold, in Germany between 5,000 and 7,000 infants were born with phocomelia. Only 40% of these children survived.

What Is Phocomelia? - Orthopedic Support Network

What is the #1 birth defect?

The #1 most common type of birth defect in the U.S. is Congenital Heart Defects (CHDs), affecting nearly 1 in 100 newborns, with issues ranging from mild to severe structural heart problems that impact blood flow. Other very common defects include Down syndrome, cleft lip/palate, spina bifida, and clubfoot, but CHDs are generally recognized as the most frequent category of structural birth defect. 

Who was the woman who stopped thalidomide?

The woman who famously stopped thalidomide from causing a major crisis in the U.S. was Dr. Frances Oldham Kelsey, a pharmacologist and physician at the FDA who, in 1960, refused to approve the drug for market due to insufficient safety data, despite immense pressure from the drug company, thereby preventing widespread birth defects in American babies. Her meticulous review and insistence on more rigorous testing saved countless lives and led to significant reforms in U.S. drug regulation, making her a national hero.
 

What is the mermaid birth defect?

Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs.

Has a baby with cyclopia ever survived?

Most studies have shown that a baby born with cyclopia syndrome has a maximum lifespan of 10–12 h [1], [3], [13], but despite the anomaly of the respiratory system, our case survived 13 h, which was the longest survival time of a newborn with cyclopia syndrome.

What rare disease has no cure?

Symptoms of Niemann-Pick disease relate to worsening function of the nerves, brain and other organs over time. Niemann-Pick disease can happen at different ages but mainly affects children. The condition has no known cure and is sometimes fatal.

How to tell if a person has Down syndrome?

Symptoms

1. Flattened face and small nose with a flat bridge.
2. Small head.
3. Short neck.
4. Tongue that tends to stick out of the mouth.
5. Upward slanting eyelids.
6. Skin fold of the upper eyelid that covers the inner corner of the eye.
7. Small, rounded ears.
8. Wide, small hands with a single crease in the palm and short fingers.

How tall is the average person with achondroplasia?

The head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches), and the average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

Can phocomelia be detected before birth?

The diagnosis of phocomelia syndrome is often made through a fetal prenatal ultrasound during the second trimester, usually between weeks 18 and 22.

Are birth defects from the mother or father?

Children of mothers are not at increased risk for defects other than the one carried by the mother, but researchers found children of fathers with birth defects have a significantly higher risk of birth defects of any kind. More Information: NIEHS Program: Chronic Disease Epidemiology Group.

What causes a six-fingered hand?

A hand with six fingers is a form of polydactyly, a congenital difference that can occur on the hand or foot. The digit could be either fully or partially formed, and it's more common on the right hand than the left. It's also called “supernumerary,” or more than the typical number.

What drug caused the limb birth defect?

The degradation of SALL4 interferes with limb development and other aspects of fetal growth. The result is the spectrum of complications indelibly linked to thalidomide: the deformed limbs and defective organs in children whose mothers took thalidomide during pregnancy as a treatment for morning sickness.

What is the rarest birth defect in the world?

There isn't one single "rarest" birth defect, as rarity varies, but conditions like Sirenomelia (Mermaid Syndrome), where legs fuse, Cyclopia, resulting in a single eye, and extreme forms of Holoprosencephaly (like alobar type) are among the most exceptionally rare, often with very low incidence rates and severe outcomes, though other highly infrequent disorders include Schizencephaly (brain clefts) and certain genetic syndromes like Smith-Lemli-Opitz or Progeria. 

Can a baby be born 24 inches?

The average length for newborns is between 19 and 20 inches long – to be exact, 19 inches for female babies and 19.75 inches for male babies. That said, healthcare providers consider a newborn length anywhere between 18.5 and 20.9 inches to be normal for full-term babies.

Who lived the longest with cyclopia?

Notable cases

• In December 2024, the Korean Society of Perinatology documented a female infant with cyclopia who survived for 8 months on palliative care, which is the longest known to date. ...
• In November 2025, a kitten with cyclopia was born on a farm in Vilhena (located within the western state of Rondônia in Brazil).

What is the rarest type of birth?

The rarest birth is on February 29 (Leap Day), occurring only every four years, but other extremely rare occurrences include babies born completely encased in the amniotic sac (en caul) and babies developing in the abdomen outside the uterus (abdominal pregnancy), with en caul births happening in about 1 in 80,000 births and abdominal pregnancies being almost unheard of, while major holidays like Christmas Day and New Year's Day are also among the least common birth dates due to scheduled procedure avoidance.
 

Who is the longest survivor of mermaid syndrome?

Tiffany Yorks (May 7, 1988 - February 24, 2016) was the longest-surviving sirenomelia patient to date. Sirenomelia, also called "mermaid syndrome," is a birth defect where the legs are fused together. While many newborns with the condition don't live long due to complications with their organs, Yorks lived until 27.

How rare is a mermaid baby?

The mermaid syndrome (sirenomelia) is an extremely rare anomaly, an incidence of 1 in 100,000 births, in which a newborn born with legs joined together featuring a mermaid-like appearance (head and trunk like humans and tail like fish), and in most cases die shortly after birth.

Who was the woman whose DNA was stolen?

The stolen legacy of Henrietta Lacks. Taken without her consent, Henrietta's 'immortal' cells have had an everlasting contribution to research – while raising important issues around medical ethics and patients' rights.

Who was the woman who had 6 babies?

Walton sextuplets. The Walton sextuplets were born at Liverpool Maternity Hospital in Liverpool, England on 18 November 1983 and were the world's first all-female surviving sextuplets, and the world's fourth known set of surviving sextuplets. The children are Hannah, Lucy, Ruth, Sarah, Kate, and Jennifer.

What drug was used in the 70s for morning sickness?

During the 1970s, when Bendectin was used most frequently, it was prescribed to 30% of pregnant women. There are approximately 4,000,000 births each year in the United States, and the background incidence of major birth defects is 3% (Table 3).