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Larsen's Syndrome
Additional findings were spatulate thumbs and a flat nasal bridge. The mother of the pregnant woman demonstrated similar joint symptoms.[ncbi.nlm.nih.gov]
[…] of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [3] A condition is autosomal dominant when having one copy of the changed[rarediseases.info.nih.gov]
It is characterised by multiple dislocations of the major joints (wrists, elbows, hips and knees), characteristic facial features including a flat nasal bridge, wide-spaced[contact.org.uk]
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
nasal bridge, small upturned nasal tip, and...[connection.ebscohost.com]
Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/ bifid uvula, micrognathia, and[prezi.com]
[…] recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat[connection.ebscohost.com]
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Ring Chromosome 9
nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has material basis in a contiguous gene deletion[malacards.org]
[…] hypertelorism Disease Ontology : 12 A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat[malacards.org]
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Red Cell Aplasia
On physical exam, the patient has a flat nasal bridge and triphalangeal thumbs.[medbullets.com]
nasal bridge thumb abnormalities e.g., triphalangeal thumbs Predisposition to cancer acute myelogenous leukemia myelodysplastic syndrome Etiology congenital impairments affecting[medbullets.com]
Findings Treatment Diamond-Blackfan anemia (DBA) Typically occurs in infancy Congenital abnormalities growth retardation craniofacial abnormalities e.g., hypertelorism and a flat[medbullets.com]
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Rhizomelic Chondrodysplasia Punctata Type 1
Additional dysmorphic alterations include coronal vertebral clefting, flat nasal bridge, frontal bossing, dwarfing, and joint contractures.[themedicalbiochemistrypage.org]
Flat nasal bridge. Congenital ichthyosiform erythroderma. Alopecia of the scalp. Cataracts. Chondrodysplasia punctata, tibial-metaphyseal type mesomelic type.[fetalultrasound.com]
This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge .[ghr.nlm.nih.gov]
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Spondyloepimetaphyseal Dysplasia Type Shohat
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gait disturbance[rarediseases.info.nih.gov]
[…] lips [ more ] 0000233 30%-79% of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Depressed nasal[rarediseases.info.nih.gov]
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Craniofacial Dysplasia-Osteopenia Syndrome
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dimple chin[rarediseases.info.nih.gov]
[…] eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed nasal[rarediseases.info.nih.gov]
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Knobloch Syndrome Type 1
nasal bridge, midface hypoplasia, bilateral epicanthic folds, cardiac dextroversion, generalized hyperextensibility of the joints, unusual palmar creases, and unilateral[orpha.net]
[…] individuals may also have other abnormalities including: abnormal lymphatic vessels in the lung, patent ductus arteriosus, a single umbilical artery, pyloric stenosis, a flat[cags.org.ae]
Affected individuals have high myopia, retinal detachment, flat nasal bridge and midfacial hypoplasia and in addition occipital encephalocele.[nature.com]
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Hypertelorism and Tetralogy of Fallot
nasal bridge[malacards.org]
The four patients (3 male sibs and a female cousin) demonstrated early cyanosis, feeding problems, hypertelorism, epicanthic folds, narrow palpebral fissures, flat nasal bridge[cags.org.ae]
Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space[dontforgetthebubbles.com]
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Glutaric Aciduria
Physical abnormalities are sometimes present and can include a large head (macrocephaly), high forehead, flat nasal bridge, malformed ears and genital abnormalities.[rarediseases.org]