| HPO |
HP:0001519 |
Disproportionate tall stature |
"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] |
— |
HP:0000098 |
| HPO |
HP:0001520 |
Large for gestational age |
"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] |
Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. |
HP:0004324 |
| HPO |
HP:0001522 |
Death in infancy |
"Death within the first 24 months of life." [HPO:probinson] |
— |
HP:0011420 |
| HPO |
HP:0001525 |
Severe failure to thrive |
— |
— |
HP:0001508 |
| HPO |
HP:0001528 |
Hemihypertrophy |
"Overgrowth of only one side of the body." [HPO:probinson] |
— |
HP:0040064, HP:0100555 |
| HPO |
HP:0001530 |
Mild postnatal growth retardation |
"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [DDD:hfirth] |
— |
HP:0008897 |
| HPO |
HP:0001531 |
Failure to thrive in infancy |
— |
— |
HP:0001508 |
| HPO |
HP:0001533 |
Slender build |
"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson] |
Slender, long-limbed habitus. |
HP:0000098, HP:0004325 |
| HPO |
HP:0001537 |
Umbilical hernia |
"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] |
— |
HP:0001551, HP:0004299 |
| HPO |
HP:0001538 |
Protuberant abdomen |
"A thrusting or bulging out of the abdomen." [HPO:probinson] |
— |
HP:0003270 |
| HPO |
HP:0001539 |
Omphalocele |
"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] |
— |
HP:0004299 |
| HPO |
HP:0001540 |
Diastasis recti |
"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [HPO:probinson] |
Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. |
HP:0010991 |
| HPO |
HP:0001541 |
Ascites |
"Accumulation of fluid in the peritoneal cavity." [HPO:probinson] |
Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. |
HP:0001438 |
| HPO |
HP:0001543 |
Gastroschisis |
"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [HPO:probinson] |
— |
HP:0010866 |
| HPO |
HP:0001544 |
Prominent umbilicus |
"Abnormally prominent umbilicus (belly button)." [HPO:curators] |
— |
HP:0001551 |
| HPO |
HP:0001545 |
Anteriorly placed anus |
"Anterior malposition of the anus." [HPO:probinson] |
— |
HP:0004397 |
| HPO |
HP:0001547 |
Abnormal rib cage morphology |
"A morphological anomaly of the rib cage." [HPO:probinson] |
— |
HP:0000765 |
| HPO |
HP:0001548 |
Overgrowth |
"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson] |
— |
HP:0000098 |
| HPO |
HP:0001549 |
Abnormal ileum morphology |
— |
— |
HP:0002244 |
| HPO |
HP:0001551 |
Abnormal umbilicus morphology |
"An abnormality of the structure or appearance of the umbilicus." [HPO:probinson] |
The umbilicus is also known as the belly button or the navel. |
HP:0004298 |
| HPO |
HP:0001552 |
Barrel-shaped chest |
"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [HPO:probinson] |
Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. |
HP:0100625 |
| HPO |
HP:0001555 |
Asymmetry of the thorax |
"Lack of symmetry between the left and right halves of the thorax." [HPO:probinson] |
— |
HP:0001547 |
| HPO |
HP:0001557 |
Prenatal movement abnormality |
"An abnormality of fetal movement." [HPO:probinson] |
Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. |
HP:0001197 |
| HPO |
HP:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| HPO |
HP:0001560 |
Abnormality of the amniotic fluid |
"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] |
— |
HP:0001197 |