Phenotypes associated with the disease Achondrogenesis type 1A (ORPHA:93299):
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Abnormal enchondral ossification (HP:0003336): An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Lethal skeletal dysplasia (HP:0005716). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93299)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Multiple rib fractures (HP:0006640): More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Femoral hernia (HP:0100541): A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93299)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93299)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93299)