| HPO |
HP:0005453 |
Absent/hypoplastic paranasal sinuses |
"Aplasia or hypoplasia of the paranasal sinuses." [HPO:probinson] |
— |
HP:0009120 |
| HPO |
HP:0005456 |
Absent ethmoidal sinuses |
"Lack (aplasia) of the ethmoidal sinus." [HPO:probinson] |
— |
HP:0002689, HP:3000040 |
| HPO |
HP:0005458 |
Premature closure of fontanelles |
"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [DDD:awilkie, HPO:probinson] |
— |
HP:0011328 |
| HPO |
HP:0005461 |
Craniofacial disproportion |
— |
— |
HP:0001999 |
| HPO |
HP:0005462 |
Calcification of falx cerebri |
"The presence of calcium deposition in the falx cerebri." [HPO:probinson] |
— |
HP:0002514, HP:0010653 |
| HPO |
HP:0005463 |
Elongated sella turcica |
— |
— |
HP:0002681 |
| HPO |
HP:0005464 |
Craniofacial osteosclerosis |
"Abnormally increased density of craniofacial bone tissue." [HPO:probinson] |
— |
HP:0011001, HP:0011821 |
| HPO |
HP:0005465 |
Facial hyperostosis |
"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [HPO:probinson] |
— |
HP:0004493 |
| HPO |
HP:0005466 |
Hypoplasia of the frontal bone |
"Underdevelopment of the frontal bone." [HPO:probinson] |
— |
HP:0002692, HP:0011218 |
| HPO |
HP:0005469 |
Flat occiput |
"Reduced convexity of the occiput (posterior part of skull)." [PMID:19125436] |
Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. |
HP:0011217 |
| HPO |
HP:0005472 |
Orbital craniosynostosis |
— |
— |
HP:0001363, HP:3000030 |
| HPO |
HP:0005473 |
Fusion of middle ear ossicles |
"Bony fusion of malleus, incus, and stapes." [HPO:probinson] |
— |
HP:0004452, HP:0100240 |
| HPO |
HP:0005474 |
Decreased calvarial ossification |
"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [DDD:awilkie, HPO:probinson] |
— |
HP:0002683, HP:0004331 |
| HPO |
HP:0005476 |
Widely patent sagittal suture |
"The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] |
— |
HP:0011329 |
| HPO |
HP:0005477 |
Progressive sclerosis of skull base |
"Progressively increasing bone density of the skull base without significant changes in bony contour." [HPO:probinson] |
— |
HP:0002694 |
| HPO |
HP:0005478 |
Prominent frontal sinuses |
— |
— |
HP:0002687 |
| HPO |
HP:0005479 |
Decreased circulating IgE |
"An abnormally decreased level of immunoglobulin E (IgE) in blood." [HPO:probinson] |
— |
HP:0004313, HP:0410241 |
| HPO |
HP:0005482 |
Abnormality of the alternative complement pathway |
"A deviation in any aspect of the alternative complement pathway." [] |
The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. {xref="PMID:16424154"} |
HP:0005339 |
| HPO |
HP:0005483 |
Abnormal epiglottis morphology |
"An abnormality of the epiglottis." [HPO:probinson] |
— |
HP:0025423 |
| HPO |
HP:0005484 |
Secondary microcephaly |
"Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [HPO:probinson] |
— |
HP:0000252 |
| HPO |
HP:0005486 |
Small fontanelle |
"A fontanelle that is small for age." [HPO:probinson, PMID:12825844] |
— |
HP:0011328 |
| HPO |
HP:0005487 |
Prominent metopic ridge |
"Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, PMID:19125436] |
The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. |
HP:0005556 |
| HPO |
HP:0005490 |
Postnatal macrocephaly |
"The postnatal development of an abnormally large skull (macrocephaly)." [HPO:probinson] |
— |
HP:0000256 |
| HPO |
HP:0005494 |
Premature posterior fontanelle closure |
— |
— |
HP:0005458 |
| HPO |
HP:0005495 |
Metopic suture patent to nasal root |
"The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [HPO:probinson, PMID:11711818] |
This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. |
HP:0005556 |