Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism

Dwarfism

Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches  , although this definition is problematic because short stature in itself is not a disorder....

 characterized by osteochondrodysplasia

Osteochondrodysplasia

Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage .-Achondroplasia:Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause ofdwarfism...

 (skeletal

Skeleton

The skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...

 abnormalities in the development of bone

Bone

Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...

 and cartilage

Cartilage

Cartilage is a flexible connective tissue found in many areas in the bodies of humans and other animals, including the joints between bones, the rib cage, the ear, the nose, the elbow, the knee, the ankle, the bronchial tubes and the intervertebral discs...

) with a narrow thorax

Thorax

The thorax is a division of an animal's body that lies between the head and the abdomen.-In tetrapods:...

, polysyndactyly

Syndactyly

Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...

, disproportionately short tibia

Tibia

The tibia , shinbone, or shankbone is the larger and stronger of the two bones in the leg below the knee in vertebrates , and connects the knee with the ankle bones....

e, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly

Brachydactyly

Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...

, peculiar faces, hypoplastic epiglottis

Epiglottis

The epiglottis is a flap that is made of elastic cartilage tissue covered with a mucous membrane, attached to the entrance of the larynx. It projects obliquely upwards behind the tongue and the hyoid bone, pointing dorsally. The term, like tonsils, is often incorrectly used to refer to the uvula...

, cardiovascular defects , renal cysts, and also genital anomalies. Death occurs before or at birth.

The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.