Phenotypes associated with the disease rhizomelic chondrodysplasia punctata type 2 (OMIM:222765):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- 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: IEA. (OMIM:222765)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:222765)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:222765)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:222765)
- Zonular cataract (HP:0010920): Zonular cataracts are defined to be cataracts that affect specific regions of the lens. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:222765)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: IEA. (OMIM:222765)
- Decreased circulating plasmalogen concentration (HP:4000165): Reduced plasmalogen concentration in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: IEA. (OMIM:222765)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:222765)
- Calcific stippling (HP:0002832): An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). Evidence: IEA. (OMIM:222765)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:222765)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: IEA. (OMIM:222765)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:222765)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:222765)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:222765)
- Stippled calcification proximal humeral epiphyses (HP:0008838). Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts (HP:6000426): Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:222765)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: PCS. Frequency: 2/2. (PMID:20583171;PMID:9843043)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Knee contracture (HP:0034671): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 1/1. (PMID:9843043)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9536089)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:222765)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: PCS. Frequency: 1/1. (PMID:20583171)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:222765)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: IEA. (OMIM:222765)