Thoracomelic Dysplasia
Diseases related with Short stature and Flat face In the following list you will find some of the most common rare diseases related to Short stature and Flat face that can[mendelian.co]
face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368 18 abnormality of the fibula 59 Very frequent (99-80%) 19 abnormality of fibula morphology 32 hallmark (90%) HP[malacards.org]
face Flat facial shape 0012368 Genu valgum Knock knees 0002857 Hyperlordosis Prominent swayback 0003307 Joint hyperflexibility Joints move beyond expected range of motion[rarediseases.info.nih.gov]
Kniest Dysplasia
The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]
They may also have craniofacial anomalies such as flat faces, bulging eyes, a short neck and/or cleft palate.[chop.edu]
The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( Human Disease Ontology, DOID_0080045 ) Similar Terms Downloads & Tools Genes[amp.pharm.mssm.edu]
Hypochondrogenesis
Affected fetuses and infants have a large head, soft cranium, flat face, barrel shaped trunk, and short long bones.[ctgt.net]
Spondyloepiphyseal dysplasia is an autosomal dominant dwarfism characterized by spine greater than extremities shortening, barrel chest with pectus carinatum, flat face with[advancedradteaching.com]
Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib[radiopaedia.org]
Cerebro-Facio-Thoracic Dysplasia
face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.[unboundmedicine.com]
face Flat facial shape 0012368 Gingival overgrowth Gum enlargement 0000212 Hemivertebrae Missing part of vertebrae 0002937 High palate Elevated palate Increased palatal height[rarediseases.info.nih.gov]
face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that[scinapse.io]
Cystitis
face with bulging and wide-set eyes.[ncbi.nlm.nih.gov]
), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot).Individuals with Kniest dysplasia have a round, flat[ncbi.nlm.nih.gov]
Stickler Syndrome Type 5
, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat[beta.mousephenotype.org]
When she was first examined at the age of 9 months, she had a very flat face with frontal bossing, buphthalmic eyes, midfacial hypoplasia, flat nasal bridge, hypoplastic depressed[nature.com]
Results: COL2A1 sequencing negative COL11A1 sequencing negative COL11A2 sequencing negative Cleft palate Flat face Deletion/Duplication Results: COL2A1 deletion/duplication[slideplayer.com]
Hypersensitivity
These usually start on the trunk, the arms and legs are often involved but the face may be spared.[chemocare.com]
It is described as a combination of reddened macular (small, distinct, flat areas) and papular (small raised lesion) rashes.[chemocare.com]
Rosacea
Flat, star-shaped skin lesions 1-3 mm in diameter on the entire face. Some non-pulsating telangiectasias appear similar to araneus nevi.[doi.org]
Mucopolysaccharidosis 1H
Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year.[day2dayparenting.com]
The facial features undergo a marked deterioration, which mainly include a low nasal bridge, flat face, and protruding forehead.[patienthelp.org]
High Myopia-Sensorineural Deafness Syndrome
Large base nose and flat face, typical of Stickler's syndrome (CASE 2).[oldfiles.bjorl.org]
The facial features of Stickler syndrome are less prominent but include a rather long flat face, and depressed nasal bridge.[wikidoc.org]
face (flat cheek bones) with a small nose, and Little or no nasal bridge Small upper jaw Small lower jaw Mouth: Cleft palate (an opening in the roof of the mouth).[hypermobility.org]