Short Nose: Causes & Reasons

Possible Causes for Short Nose

nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic [humpath.com]

A clinical diagnosis may be made by identifying the facial phenotype, including prominent forehead, midface retraction, and short, upturned nose, plus one of either of the [ncbi.nlm.nih.gov]

[…] metopic suture extends to nasal root coarse facies high forehead, protruding forehead midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis hypertelorism short [humpath.com]

Geleophysic Dysplasia Type 2

Symptoms of Geleophysic dysplasia type 2 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Hypertelorism Long philtrum Short nose [familydiagnosis.com]

[…] foot ; Short nose ; Short palm ; Short stature ; Smooth philtrum ; Thin upper lip vermilion ; Toe walking Associated Genes FBN1 (Withdrawn symbols: FBN, MASS, MFS1, OCTD, [mousephenotype.org]

Symptoms - Geleophysic dwarfism * Short stature * Short hands * Round face * Full face * Short nose Causes - Geleophysic dwarfism Not supplied. [checkorphan.org]

Rudiger's Syndrome

Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia [medlineplus.gov]

Excessive growth of hair as well as widely spaced eyes, a flat midface, low-set ears, a short low-set nose, and a short and wide neck with an excess of skin are typical features [rarediseases.org]

Rudiger et al. (1971) described a brother and sister with coarse facies, prominent forehead, flat nasal bridge, stubby nose, and protuberant upper lip. [omim.org]

BIDS Syndrome

Other manifestations of TTD include mental and growth retardation, short stature, micrognathia, small nose, large ears, decreased fertility, ocular abnormalities such as congenital [dermatologyadvisor.com]

[…] based on the presence or absence of the following features: photosensitivity (P), ichthyosis (I), brittle hair (B), intellectual impairment (I), decreased fertility (D), and short [dermatologyadvisor.com]

Aarskog-Scott Syndrome

In our case, there was ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpabral fissure, small and short nose, broad nasal bridge, long philtrum, slight crease [peertechzpublications.com]

The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak [ncbi.nlm.nih.gov]

Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with [ncbi.nlm.nih.gov]

Robinow Syndrome

These infants have slight to moderate shortness of stature, macro-cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper-telorism, a short nose with [rrnursingschool.biz]

[…] a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. [ncbi.nlm.nih.gov]

These infants have slight to moderate shortness of stature, macro- cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper- telorism, a short nose with [rrnursingschool.biz]

Femoral Hypoplasia

The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia. [ncbi.nlm.nih.gov]

The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia. [ncbi.nlm.nih.gov]

This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft [ncbi.nlm.nih.gov]

Autosomal-Recessive Robinow Syndrome

[…] hypertelorism, short nose, short stature, mesomelic shortening limbs Robinow syndrome DRS1 Isolated (sporadic) - - - - - Johan den Dunnen 00311880 Legend How to query [databases.lovd.nl]

Robinow syndrome is characterized by mesomelic limb shortening, macrocephaly, dysmorphic facial features (hypertelorism, midfacial hypoplasia, short nose with depressed nasal [ctgt.net]

[…] middle phalanx of the 5th finger ; Short neck ; Short nose ; Short palm ; Short stature ; Small hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis [mousephenotype.org]

Hypomandibular Faciocranial Dysostosis

nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) [malacards.org]

Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture [ncbi.nlm.nih.gov]

nose with anteverted nares, laryngeal hypoplasia, and low-set ears. [ncbi.nlm.nih.gov]

Acrodysostosis

[…] and legs with small hands and feet Short head, measured front to back Short height Small, upturned broad nose with flat bridge Distinct features of the face (short nose, open [nlm.nih.gov]

[…] and feet Short head, measured front to back (brachycephaly) Short height Small, upturned broad nose with flat bridge Unusual features of the face (short nose, open mouth, [coordinatedhealth.com]

Wide-spaced eyes, sometimes with extra skin fold at corner of eye In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose [nlm.nih.gov]

Cenani Syndactylism

Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose [ncbi.nlm.nih.gov]

Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short [orpha.net]

a short prominent philtrum and malar hypoplasia. [ncbi.nlm.nih.gov]

Fetal Hydantoin Syndrome

The characteristics associated with fetal hydantoin syndrome include distinct facial features, such as low-set ears, widely-spaced eyes, short nose, short neck, and a fold [thinkgenetic.com]

nose, broad depressed nasal bridge, cleft lip and palate, onychodigital dysplasia, cardiac malformations, mental retardation, rarely neuroblastoma. [medical-dictionary.thefreedictionary.com]

Close-up of the face of the same infant shows the short nose, absence of the philtrum, and thin vermilion border of the upper lip. [rrnursingschool.biz]

Femoral Agenesis - Femoral Hypoplasia

The first patient was delivered at term and had short nose with anteverted nares, narrow mouth, long philtrum, full cheeks, short neck, short proximal arms with absent flexion [omim.org]

Note the typical appearance of the face with the upslanting palpebral fissures, the short nose with hypoplastic alae nasi, long philtrum and micrognathia which was due to [myfertilityguide.biz]

[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in [phenotip.com]

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

Name Spondyloepimetaphyseal Dysplasia, Sponastrime Type Synonyms SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION, SPONASTRIME DYSPLASIA [mousephenotype.org]

[…] middle portion of limb 0003027 Osteoporosis 0000939 Platyspondyly Flattened vertebrae 0000926 Rhizomelia Disproportionately short upper portion of limb 0008905 Short nose [rarediseases.info.nih.gov]

[…] dental roots ; Short nose ; Spondyloepimetaphyseal dysplasia ; Subglottic stenosis ; Thoracic kyphosis Associated Genes - Mouse Orthologs - Source OMIM:271510 (names, synonyms [mousephenotype.org]

Trisomy 12p

nose with anteverted nostrils, large philtrum, wide, prominent lower lip, and poly(syn)dactyly of feet. [semanticscholar.org]

His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose [investigadores.uandes.cl]

Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short [semanticscholar.org]

Miller-Dieker Syndrome

The patient showed prominent forehead, a short nose with upturned nares and a protuberant upper lip. So chromosomal test and metabolic study were done. [synapse.koreamed.org]

All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with [ncbi.nlm.nih.gov]

nose with upturned nares, thickened upper lip with a thin vermilion upper border, widely spaced eyes, low ears, and small jaw. [rxlist.com]

Jacobsen Syndrome

Other clinical features include craniofacial anomalies, a short nose with a broad nasal bridge, epicanthus, cleft palate, and low-set, malformed ears. [accessanesthesiology.mhmedical.com]

nose, v-shaped mouth, small ears, low set posteriorly rotated ears). [ncbi.nlm.nih.gov]

Present at birth with dysmorphic signs including low-set dysmorphic ears; broad, short nose with anteverted nostrils; retrognathia; U-shaped upper lip; divergent strabismus [accessanesthesiology.mhmedical.com]

Coffin-Lowry Syndrome

An adolescent female presented with intellectual disability, stimulus-induced drop episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide [ncbi.nlm.nih.gov]

Physical findings: Individuals with CLS may present with distinctive facial features including a prominent forehead, widely spaced and downward slanting eyes, and short nose [secure.ssa.gov]

People with this disorder usually have distinctive facial features including a prominent forehead, widely spaced eyes, a short nose with a wide tip, and wide mouth with full [coffinlowry.wordpress.com]

Cerebro-Facio-Thoracic Dysplasia

He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput, [docslide.com.br]

[…] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 [rarediseases.info.nih.gov]

The bushy eyebrous spanned the bridge of the nose. There was hyper- telorism. with epicanthic folds, and the nose u a \ short and the nostrils anteverted. [vdocuments.site]

Disorder of Sex Development - Intellectual Disability Syndrome

[…] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length [rarediseases.info.nih.gov]

nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196 6 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551 7 short thorax 60 33 hallmark (90%) Very frequent [malacards.org]

[…] mineral density Low solidness and mass of the bones 0004349 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe sensorineural hearing impairment 0008625 Short [rarediseases.info.nih.gov]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Sings and symptoms of Williams syndrome include distinct facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems [medicinenet.com]

[…] foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes Triangular face Hypoplasia of teeth Failure to thrive Narrow naris Overgrowth Dental malocclusion [mendelian.co]

Facial Features Children with Williams syndrome have unique facial features that may include: Wide forehead Bridge of the nose is flattened Short nose with a large tip Wide [webmd.com]

Cornelia De Lange Syndrome

Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows [ncbi.nlm.nih.gov]

[…] stature Obesity Sometimes microcephaly, intellectual disabilities Coarse face: thick eyebrows, synophrys, long eyelashes, short nose, anteverted nostril, long philtrum Brachydactyly [onlinelibrary.wiley.com]

Some people will have a small number of features but don't have CdLS.Key features Long and/or thick eyebrows Short nose Concave nasal ridge and/or upturned nasal tip Long [en.wikipedia.org]

Baraitser-Winter Syndrome

[…] neck Short nose Thin upper lip vermilion Wide mouth Wide nasal bridge Abnormality of limbs Duplication of phalanx of hallux Abnormality of the cardiovascular system Aortic [ncbi.nlm.nih.gov]

nose and upturned tip, and thin upper lip along with high arched palate, mild micrognathia, low posterior hair line, prominent cheeks, and long hypoplastic philtrum. [cags.org.ae]

nose, a flat tip of the nose, a long philtrum and a cleft lip or palate. [fdna.health]

Freeman-Sheldon Syndrome

Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of [rarediseases.info.nih.gov]

[…] pursed lips – giving the appearance of a ‘whistling face’ – prominent forehead and brow ridges – mid-face hypoplasia (a sunken appearance of the middle of the face) – a short [contact.org.uk]

The disease-specific oral and dental findings include prominent supraorbital ridge, sunken eyes, telecanthus, short nose, colobomata of the nostrils, long philtrum [Figure [jisppd.com]

Pallister-Killian Syndrome

nose with upturned nares, large mouth with downturned corners and prominent upper lip. [orpha.net]

The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short [ashg.org]

nose, a flat nasal bridge, and a short neck [ 8, 9 ]. [synapse.koreamed.org]

Renpenning Syndrome

The nose may appear long or bulbous, with overhanging columella. [malacards.org]

Renpenning syndrome. (309500) UniProtKB/Swiss-Prot : 76 Renpenning syndrome 1: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short [malacards.org]

Tall narrow face Up-slanting palpebral fissures Abnormal nasal configuration Abnormal ears (cupped and laterally protruding ears) Short philtrum Nose may appear long or [pfond.cmmt.ubc.ca]

Acrocallosal Syndrome

nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. [ncbi.nlm.nih.gov]

Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia [ncbi.nlm.nih.gov]

Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle), [deepdyve.com]

Simpson Dysmorphia Syndrome

nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis. [zora.uzh.ch]

A Short Nose With A Flat And Broad Bridge Thorax Supernumerary Nipples Rib Abnormalities Pectus Excavatum Coccygeal Tags Or Bony Appendages Skin Thickened Or Dark And Redundant [neo-genetics.com]

[…] generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse facial features, widely spaced eyes, a short [zora.uzh.ch]

Williams-Beuren Syndrome

The characteristic facial features include puffiness around the eyes, short nose, wide mouth, full lips, full cheeks and a small chin. [aapos.org]

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips [medicinenet.com]

Stickler Syndrome Type 5

Proptotic eyes, flat face with mild frontal bossing, depressed nasal bridge, and short nose. ( f, g ) Case 3, age 9 months. [nature.com]

Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. [jmg.bmj.com]

Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face [checkorphan.org]