Phenotypes associated with the disease spondylo-megaepiphyseal-metaphyseal dysplasia (OMIM:613330):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- 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: TAS. (OMIM:613330)
- Pseudoepiphyses of hand bones (HP:0004288). Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: PCS. (PMID:20004766)
- Delayed vertebral ossification (HP:0031096): A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:613330)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Proximal placement of thumb (HP:0009623): Proximal mislocalization of the thumb. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:613330)
- 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. (OMIM:613330)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. (OMIM:613330)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- 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: PCS. Frequency: 1/3. (PMID:20004766)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. (OMIM:613330)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Enlarged epiphyses (HP:0010580): Increased size of epiphyses. Evidence: TAS. (OMIM:613330)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. (OMIM:613330)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- 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:20004766)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. (OMIM:613330)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Delayed pubic bone ossification (HP:0008788): Delayed maturation and calcification of the pubic bone. Evidence: PCS. Frequency: 3/3. (PMID:20004766)
- Thoracic kyphoscoliosis (HP:0005659). Evidence: PCS. Frequency: 1/3. (PMID:20004766)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: PCS. Frequency: 3/3. (PMID:20004766)