Phenotypes associated with the disease rhizomelic chondrodysplasia punctata type 1 (OMIM:215100, an entry in Online Mendelian Inheritance in Man):
- Flared metaphysis (HP:0003015, a Human Phenotype Ontology term): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:215100)
- Severe short stature (HP:0003510, a Human Phenotype Ontology term): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: IEA. (OMIM:215100)
- Upslanted palpebral fissure (HP:0000582, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: IEA. (OMIM:215100)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: IEA. (OMIM:215100)
- Rhizomelia (HP:0008905, a Human Phenotype Ontology term): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: IEA. (OMIM:215100)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:215100)
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: IEA. (OMIM:215100)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): 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:215100)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:215100)
- Flat face (HP:0012368, a Human Phenotype Ontology term): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:215100)
- Elevated circulating phytanic acid concentration (HP:0010571, a Human Phenotype Ontology term): An abnormal elevation of phytanic acid. Evidence: PCS. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:12325024)
- Developmental cataract (HP:0000519, a Human Phenotype Ontology term): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: IEA. (OMIM:215100)
- Severe failure to thrive (HP:0001525, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:215100)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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:215100)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:215100)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: IEA. (OMIM:215100)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:215100)
- Calcific stippling of infantile cartilaginous skeleton (HP:0005841, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:215100)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:215100)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:215100)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:215100)
- Epiphyseal stippling (HP:0010655, a Human Phenotype Ontology term): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. (OMIM:215100)
- Ichthyosis (HP:0008064, a Human Phenotype Ontology term): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: IEA. (OMIM:215100)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:215100)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:9090381)
- Coronal cleft vertebrae (HP:0003417, a Human Phenotype Ontology term): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: IEA. (OMIM:215100)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:215100)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: IEA. (OMIM:215100)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:215100)