Phenotypes associated with the disease cleidocranial dysplasia 1 (OMIM:119600):
- Moderately short stature (HP:0008848): A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. Evidence: IEA. (OMIM:119600)
- Parietal bossing (HP:0000242): Parietal bossing is a marked prominence in the parietal region. Evidence: PCS. Frequency: 1/1. (PMID:20931042)
- Abnormal facility in opposing the shoulders (HP:0005259): Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest. Evidence: PCS. Frequency: 1/1. (PMID:20931042)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:119600)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: IEA. (OMIM:119600)
- 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: 2/3. (PMID:28878609)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: IEA. (OMIM:119600)
- Aplasia/Hypoplasia of the calvaria (HP:6000872): A developmental defect characterized by absence or underdevelopment of the calvaria. Evidence: PCS. (PMID:16463420)
- Delayed eruption of primary teeth (HP:0000680): Delayed tooth eruption affecting the primary dentition. Evidence: IEA. (OMIM:119600)
- Wide sacroiliac joint (HP:6000875): Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal. Evidence: PCS. (PMID:20931042)
- 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: IEA. (OMIM:119600)
- 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: PCS. Frequency: 2/3. (PMID:28878609)
- Hypoplastic frontal sinuses (HP:0002738): Underdevelopment of frontal sinus. Evidence: IEA. (OMIM:119600)
- 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: 1/3. (PMID:28878609)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: IEA. (OMIM:119600)
- Spondylolysis (HP:0003304): Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. Evidence: IEA. (OMIM:119600)
- Cervical ribs (HP:0000891). Evidence: IEA. (OMIM:119600)
- 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: IEA. (OMIM:119600)
- 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: TAS. (OMIM:119600)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 1/3. (PMID:28878609)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: PCS. Frequency: 2/3. (PMID:28878609)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: TAS. (OMIM:119600)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. (OMIM:119600)
- Large foramen magnum (HP:0002700): An abnormal increase in the size of the foramen magnum. Evidence: IEA. (OMIM:119600)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: IEA. (OMIM:119600)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9182765)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:28878609)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: TAS. (OMIM:119600)
- 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: IEA. (OMIM:119600)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: IEA. (OMIM:119600)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: TAS. (OMIM:119600)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:119600)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: IEA. (OMIM:119600)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:119600)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:119600)
- 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: TAS. (OMIM:119600)
- 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: IEA. (OMIM:119600)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: IEA. (OMIM:119600)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 1/3. (PMID:28878609)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:119600)
- Spondylolisthesis (HP:0003302): Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Evidence: IEA. (OMIM:119600)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:119600)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/3. (PMID:28878609)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: IEA. (OMIM:119600)
- Persistent open anterior fontanelle (HP:0004474): The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. Evidence: IEA. (OMIM:119600)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 1/3. (PMID:28878609)
- Wide pubic symphysis (HP:0003183): Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. Evidence: IEA. (OMIM:119600)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: PCS. Frequency: 1/1. (PMID:28878609)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/1. (PMID:20931042)
- Long second metacarpal (HP:0006040). Evidence: IEA. (OMIM:119600)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: IEA. (OMIM:119600)
- Absent paranasal sinuses (HP:0002689): Aplasia of the paranasal sinuses. Evidence: IEA. (OMIM:119600)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/1. (PMID:20931042)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: IEA. (OMIM:119600)
- Delayed pubic bone ossification (HP:0008788): Delayed maturation and calcification of the pubic bone. Evidence: IEA. (OMIM:119600)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:119600)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. (OMIM:119600)
- Absent frontal sinuses (HP:0002688): Aplasia of frontal sinus. Evidence: IEA. (OMIM:119600)