| HPO |
HP:0002684 |
Thickened calvaria |
"The presence of an abnormally thick calvaria." [HPO:curators] |
— |
HP:0002683 |
| HPO |
HP:0002686 |
Prenatal maternal abnormality |
— |
— |
HP:0001197 |
| HPO |
HP:0002687 |
Abnormality of frontal sinus |
"An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [ORCID:0000-0001-5889-4463] |
— |
HP:0000245 |
| HPO |
HP:0002688 |
Absent frontal sinuses |
"Aplasia of frontal sinus." [HPO:probinson] |
— |
HP:0009119 |
| HPO |
HP:0002689 |
Absent paranasal sinuses |
"Aplasia of the paranasal sinuses." [HPO:probinson] |
— |
HP:0005453 |
| HPO |
HP:0002690 |
Large sella turcica |
"An abnormal enlargement of the sella turcica." [HPO:probinson] |
— |
HP:0002679 |
| HPO |
HP:0002691 |
Platybasia |
"A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson] |
Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. {xref="ORCID:0000-0001-5889-4463"} |
HP:0002648 |
| HPO |
HP:0002692 |
Hypoplastic facial bones |
— |
— |
HP:0011821 |
| HPO |
HP:0002693 |
Abnormality of the skull base |
"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] |
— |
HP:0000929 |
| HPO |
HP:0002694 |
Sclerosis of skull base |
"Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson] |
— |
HP:0002693, HP:0011001 |
| HPO |
HP:0002695 |
Symmetrical, oval parietal bone defects |
— |
— |
HP:0002696 |
| HPO |
HP:0002696 |
Abnormal parietal bone morphology |
"Any abnormality of the parietal bone of the skull." [HPO:curators] |
— |
HP:0002648 |
| HPO |
HP:0002697 |
Parietal foramina |
"The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson] |
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. |
HP:0002696 |
| HPO |
HP:0002699 |
Abnormal foramen magnum morphology |
"Any abnormality of the foramen magnum." [HPO:probinson] |
The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. |
HP:0000929 |
| HPO |
HP:0002700 |
Large foramen magnum |
"An abnormal increase in the size of the foramen magnum." [HPO:curators] |
— |
HP:0002699 |
| HPO |
HP:0002703 |
Abnormality of skull ossification |
"An abnormality of the process of ossification of the skull." [HPO:probinson] |
The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. |
HP:0000929 |
| HPO |
HP:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0002707 |
Palate telangiectasia |
"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] |
— |
HP:0000174, HP:0000228 |
| HPO |
HP:0002708 |
Prominent median palatal raphe |
"Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators] |
— |
HP:0000174 |
| HPO |
HP:0002710 |
Commissural lip pit |
"A depression located at an oral commissure." [HPO:sdoelken, PMID:19125428] |
Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. |
HP:0100267 |
| HPO |
HP:0002711 |
Exaggerated median tongue furrow |
"Increased depth of the median tongue furrow." [HPO:probinson] |
— |
HP:0000221 |
| HPO |
HP:0002714 |
Downturned corners of mouth |
"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, PMID:19125428] |
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). |
HP:0011338 |
| HPO |
HP:0002715 |
Abnormality of the immune system |
"An abnormality of the immune system." [HPO:probinson] |
The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. |
HP:0000118 |
| HPO |
HP:0002716 |
Lymphadenopathy |
"Enlargment (swelling) of a lymph node." [HPO:probinson] |
— |
HP:0002733 |
| HPO |
HP:0002717 |
Adrenal overactivity |
— |
Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. |
HP:0011733 |