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80 Possible Causes for Anteverted Nostril, Rhizomelic Limbs

  • Rhizomelic Chondrodysplasia Punctata Type 2

    Symptoms - Rhizomelic chondrodysplasia punctata- type 2 Low nose bridge Broad nose bridge Anteverted nostrils Cataracts Short arms Causes - Rhizomelic chondrodysplasia punctata[checkorphan.org] Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening,[ctgt.net] (anteverted nares) and malformed (dysplastic) ears.[rarediseases.org]

  • Pallister-Killian Syndrome

    nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease : may be seen in up to 25% of cases 4 congenital diaphragmatic hernia : may[radiopaedia.org] We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening[ncbi.nlm.nih.gov] Rhizomelic limb shortening, diaphragmatic hernia, thickened nuchal fold, increased prenasal thickness, polydactyly and polyhydramnios were frequent and distinctive findings[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    ) nostrils vertical fold of skin over the inner corner of the eye (epicanthal fold) upslanting eyes shallow orbital ridges minor ear abnormalities Other characteristics include[encyclopedia.com] limb shortening, metaphyseal flaring, irregular, broad or cupped metaphyses, vertebral disc calcification, dislocated hips, small thorax.[clinicaladvisor.com] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia of the corpus callosum 0007370 Areflexia Absent tendon reflexes[rarediseases.info.nih.gov]

  • Stickler Syndrome Type 3

    Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] Birth length was 44 cm, with rhizomelic shortening of the lower limbs.[genome.jp] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of[rarediseases.info.nih.gov]

  • Stickler Syndrome Type 2

    Symptoms - Stickler syndrome- type 2 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face[checkorphan.org] Symptoms include midface hypoplasia with a flat nasal bridge, small upturned nasal tip, micrognathia, sensorineural hearing loss, and rhizomelic limb shortening.[encyclopedia.com] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Enlarged epiphyses Large end part of[rarediseases.info.nih.gov]

  • Roifman Syndrome

    […] that are flared forward (anteverted); a sunken (depressed) nasal bridge; and/or abnormally positioned (i.e. low-set, posteriorly rotated) ears.[rarediseases.org] […] and cirrhosis POMT1 limb girdle muscular dystrophy dystroglycanopathy CAPN3 2A limb girdle muscular dystrophy type 2a DYSF 2B limb girdle muscular dystrophy type 2b SGCG[dokumen.tips] Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. Am J Med Genet. 1992;42:724-7.[rarediseases.org]

  • Metaphyseal Acroscyphodysplasia

    Chondrodysplasia punctata (CPD) (stippled epiphyses group) Rhizomelic CDP Type 1 AR Rhizomelic CDP Type 2 AR Rhizomelic CDP Type 3 AR CDP Conradi-Hunermann Type XLD CDP X-linked[gamuts.isradiology.org] […] recessive Type (brachytelephalangic) XLR CDP Tibia-metacarpal Type AD CHILD (limb-reduction-icthyosis) XLD CHILD (limb-reduction-icthyosis) XLD Hydrops-ectopic calcification-moth-eaten[gamuts.isradiology.org]

  • AICA-Ribosiduria

    […] defects (CHILD) HEM skeletal dysplasia Rhizomelic chondrodysplasia punctata Blomstrand syndrome Desmosterolosis Infantile cortical hyperostosis Raine syndrome Osteopetrosis[csirnotes.com] […] dwarfism, type I (MOPD I) Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Desbuquois syndrome Congenital hemidysplasia with ichthyosiform nevus and limb[csirnotes.com]

  • Craniorhiny

    nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmertical nasolabial cysts on upper lip.[orpha.net] AND DEVELOPMENTAL DELAY Short Stature-Obesity Syndrome Silver-Russell syndrome Simosa Cranio Facial Syndrome Smith-Kingsmore Syndrome Sonoda Syndrome Splenogonadal Fusion Limb[rgd.mcw.edu] GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 Skull: craniosynostosis oxycephaly recessed forehead lack of nasofrontal angle Nose: wide nose anteverted[malacards.org]

  • Fibrochondrogenesis

    ( anteverted nares ).[ghr.nlm.nih.gov] limbs, and wide metaphysis.[ncbi.nlm.nih.gov] Affected individuals have a relatively flat-appearing midface, particularly a small nose with a flat nasal bridge and nostrils that open to the front rather than downward[ghr.nlm.nih.gov]

Further symptoms

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