Phenotypes associated with the disease Lethal Kniest-like dysplasia (ORPHA:2347):
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- 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: Frequent (HP:0040282). (ORPHA:2347)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- 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: Frequent (HP:0040282). (ORPHA:2347)
- Anterior rib cupping (HP:0000907): Wide, concave anterior rib end. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Breech presentation (HP:0001623): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Abnormal cartilage morphology (HP:0002763): Any morphological abnormality of cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Abnormal ischium morphology (HP:0003174): An anomaly of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Mesomelic/rhizomelic limb shortening (HP:0005026). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Abnormal cartilage matrix (HP:0008178). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Severe short-limb dwarfism (HP:0008890). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2347)