Antenatal Abnormality
Antenatal abnormality means a problem in the baby that starts before birth and is found during pregnancy. Doctors often use this term for a structural problem, a genetic problem, a chromosomal ...
Rx Pregnancy, Baby & Mom Care
Congenital Chylothorax
Congenital chylothorax means a baby is born with chyle collecting in the space around the lungs, called the pleural space. Chyle is a lymph fluid that carries fats, proteins, and many lymphocytes, ...
Hemimelia
Hemimelia is a birth difference where a baby is born with the lower part of an arm or leg missing or not fully formed. Doctors usually use this word when the “distal” part (far end) of a limb, like ...
Dwarfism-Onychodysplasia
Dwarfism-onychodysplasia is another name for a rare genetic condition called Coffin–Siris syndrome. It is a disorder that affects many parts of the body, especially growth, nails of the little ...
Fetal Encasement Syndrome
Fetal encasement syndrome, also called cocoon syndrome, is a very rare and very severe problem that happens very early in pregnancy when the baby is still an embryo. In this condition, the baby’s ...
Cobblestone Lissencephaly without Muscular or Ocular Involvement
Cobblestone lissencephaly without muscular or ocular involvement is a very rare brain development problem that starts before birth. In this condition, the surface of the brain does not form normal ...
Cloverleaf Skull–Multiple Congenital Anomalies Syndrome
Cloverleaf skull–multiple congenital anomalies syndrome is a very rare condition that a baby is born with. In this syndrome, the bones of the skull close too early in many places. This makes the ...
Benallegue-Lacete Syndrome
Benallegue-Lacete syndrome is an extremely rare birth condition that affects how the baby’s bones and skull grow before birth. It is also called a syndromic craniosynostosis, which means the skull ...
Cloverleaf Skull-Asphyxiating Thoracic DysplasiaSsyndrome
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome is an extremely rare genetic bone disorder that affects a baby before birth. In this syndrome, the bones of the skull close too early and ...
Kleeblattschadel Deformity,
Kleeblattschadel deformity, also called cloverleaf skull, is a very rare birth problem where a baby’s skull looks like a three-lobed cloverleaf. This happens because several skull joints (called ...
Cloverleaf Skull Deformity
Cloverleaf skull deformity is a very rare problem where a baby’s skull looks like a three-leaf clover when seen from the front. The head has three rounded bulges: one in the middle and one on each ...
Cloverleaf Skull Syndrome
Cloverleaf skull syndrome is a rare problem where a baby’s skull grows in a three-lobed shape that looks like a cloverleaf. This happens because several soft joints (sutures) between the skull bones ...
Clouston Syndrome
Clouston syndrome is a rare condition that a person is born with. It mainly affects three things in the body: the hair, the nails, and the skin on the palms of the hands and the soles of the feet. ...
Exstrophy of Cloaca Sequence
Exstrophy of cloaca sequence is a very rare birth defect. It happens very early in pregnancy, when the baby is still an embryo. In this condition, the lower tummy wall does not close fully, and parts ...
Cloacal Exstrophy
Cloacal exstrophy is a very rare birth defect. It happens when a baby’s lower tummy (abdomen), bladder, intestines, bottom (anus), and sometimes the spine and sex organs do not form in the usual way ...
Cleft Palate with Intestinal Malrotation and Cardiopathy Syndrome
Cleft palate with intestinal malrotation and cardiopathy syndrome (often described as cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an extremely rare congenital (present at birth) ...
Margarita Type of Ectodermal Dysplasia
Margarita type of ectodermal dysplasia is a very rare genetic condition where a child is born with changes in the lips and palate, skin, hair, nails, and teeth, and often with fingers or toes that ...
Prieur–Griscelli Syndrome
Prieur–Griscelli syndrome is another name for a very rare disease called neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic, cutaneous and articular syndrome ...
Chorea-Acanthocytosis
Chorea-acanthocytosis (often shortened to ChAc) is a very rare inherited brain and blood disease. It mainly affects movement, behaviour, and thinking. In this disorder, some red blood cells become ...
Notochordal Sarcoma
Notochordal sarcoma is another name doctors sometimes use for chordoma, a rare cancer that starts from tiny leftover pieces of the embryo’s notochord (a soft rod that later becomes part of the ...
