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Short columella

MedGen UID:
341783
Concept ID:
C1857479
Finding
Synonyms: Columella, short; Decreased length of columella; Hypoplasia of columella
 
HPO: HP:0002000

Definition

Reduced distance from the anterior border of the naris to the subnasale. [from HPO]

Term Hierarchy

Conditions with this feature

Binder syndrome
MedGen UID:
66318
Concept ID:
C0220692
Disease or Syndrome
A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a ''reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic.
Nasal bones, absence of
MedGen UID:
90946
Concept ID:
C0339851
Finding
Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
325196
Concept ID:
C1837564
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Holoprosencephaly 3
MedGen UID:
327125
Concept ID:
C1840529
Disease or Syndrome
Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.
Wiedemann-Steiner syndrome
MedGen UID:
340266
Concept ID:
C1854630
Disease or Syndrome
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.
Stromme syndrome
MedGen UID:
340938
Concept ID:
C1855705
Disease or Syndrome
Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
Aurocephalosyndactyly
MedGen UID:
354732
Concept ID:
C1862380
Disease or Syndrome
Ehlers-Danlos syndrome, musculocontractural type
MedGen UID:
356497
Concept ID:
C1866294
Disease or Syndrome
Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Omphalocele syndrome, Shprintzen-Goldberg type
MedGen UID:
356653
Concept ID:
C1866958
Disease or Syndrome
A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Intellectual disability, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Mental or Behavioral Dysfunction
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).
Temple-Baraitser syndrome
MedGen UID:
395636
Concept ID:
C2678486
Disease or Syndrome
Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).
Chromosome 4Q32.1-q32.2 triplication syndrome
MedGen UID:
462207
Concept ID:
C3150857
Disease or Syndrome
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Kabuki syndrome 2
MedGen UID:
477126
Concept ID:
C3275495
Disease or Syndrome
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Tatton-Brown-Rahman overgrowth syndrome
MedGen UID:
862982
Concept ID:
C4014545
Disease or Syndrome
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 SD above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.
Congenital contractures of the limbs and face, hypotonia, and developmental delay
MedGen UID:
907234
Concept ID:
C4225398
Disease or Syndrome
CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).
Chitayat syndrome
MedGen UID:
934646
Concept ID:
C4310679
Disease or Syndrome
Chitayat syndrome (CHYTS) is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).
Sweeney-Cox syndrome
MedGen UID:
1625659
Concept ID:
C4540299
Disease or Syndrome
Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
MedGen UID:
1656239
Concept ID:
C4750837
Disease or Syndrome
ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.
Menke-Hennekam syndrome 1
MedGen UID:
1675629
Concept ID:
C5193034
Disease or Syndrome
Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. Genetic Heterogeneity of Menke-Hennekam Syndrome Menke-Hennekam syndrome-2 (MKHK2; 618333) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene (602700). Mutation elsewhere in that gene results in RSTS2 (613684).
Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Congenital disorder of deglycosylation 2
MedGen UID:
1809253
Concept ID:
C5676931
Disease or Syndrome
Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis (Maia et al., 2022). For a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 (615273).
Neurodevelopmental disorder with speech delay and variable ocular anomalies
MedGen UID:
1823967
Concept ID:
C5774194
Disease or Syndrome
Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy. Most affected individuals have dysmorphic facial features with notable ocular anomalies, including exotropia, strabismus, hypo- or hypertropia, and refraction problems. Additional features may include febrile seizures, sensorineural hearing loss, and behavioral abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported (Broly et al., 2022).
Orofaciodigital syndrome 19
MedGen UID:
1824021
Concept ID:
C5774248
Disease or Syndrome
Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022).

Professional guidelines

PubMed

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Cutting C, Grayson B, Brecht L, Santiago P, Wood R, Kwon S
Plast Reconstr Surg 1998 Mar;101(3):630-9. doi: 10.1097/00006534-199803000-00009. PMID: 9500379

Recent clinical studies

Etiology

Resuli AS, Dilber M, Bayar Muluk N, Cingi C
Eur Rev Med Pharmacol Sci 2023 Mar;27(2 Suppl):8-13. doi: 10.26355/eurrev_202303_31695. PMID: 36971215
Kang SH, Moon SH, Kim HS
Dermatol Surg 2020 May;46(5):664-670. doi: 10.1097/DSS.0000000000002146. PMID: 31517664
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Kim EK, Daniel RK
Aesthet Surg J 2012 Nov;32(8):1018-30. doi: 10.1177/1090820X12462716. PMID: 23110932
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379

Diagnosis

Buzea C, Boulanger N
Clin Dysmorphol 2022 Jul 1;31(3):109-112. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000420. PMID: 35256564
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Ürményi GL, Felzemburgh VA, Fernandes EC, Peixoto ARLF
J Craniofac Surg 2018 Sep;29(6):1457-1462. doi: 10.1097/SCS.0000000000004712. PMID: 30028395
Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC
Am J Med Genet A 2018 Apr;176(4):862-876. Epub 2018 Feb 20 doi: 10.1002/ajmg.a.38626. PMID: 29460469
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC
Am J Med Genet A 2016 Oct;170(10):2681-93. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37800. PMID: 27311832

Therapy

Ürményi GL, Felzemburgh VA, Fernandes EC, Peixoto ARLF
J Craniofac Surg 2018 Sep;29(6):1457-1462. doi: 10.1097/SCS.0000000000004712. PMID: 30028395
Bennun RD, Harfin JH
J Craniofac Surg 2018 Sep;29(6):1441-1444. doi: 10.1097/SCS.0000000000004756. PMID: 30015740
Jung DH, Jin SG, Hyun SM
Facial Plast Surg Clin North Am 2018 Aug;26(3):377-388. Epub 2018 Jun 7 doi: 10.1016/j.fsc.2018.03.011. PMID: 30005793
Kim EK, Daniel RK
Aesthet Surg J 2012 Nov;32(8):1018-30. doi: 10.1177/1090820X12462716. PMID: 23110932
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379

Prognosis

Nakamura N, Okawachi T, Nozoe E, Nishihara K, Matsunaga K
J Oral Maxillofac Surg 2011 Nov;69(11):e469-81. Epub 2011 Aug 5 doi: 10.1016/j.joms.2011.03.041. PMID: 21820229
Cheon YW, Park BY
Plast Reconstr Surg 2010 Aug;126(2):543-553. doi: 10.1097/PRS.0b013e3181e0969a. PMID: 20679836
Holmes AD, Lee SJ, Greensmith A, Heggie A, Meara JG
J Craniofac Surg 2010 Mar;21(2):543-51. doi: 10.1097/SCS.0b013e3181d024b0. PMID: 20216441
Atik B, Tan O, Bekerecioglu M, Kiroglu AF, Tekes L
Laryngoscope 2006 Dec;116(12):2120-4. doi: 10.1097/01.mlg.0000237805.90621.30. PMID: 17146382
Shinohara T, Gyo K, Saiki T, Yanagihara N
Clin Otolaryngol Allied Sci 2000 Aug;25(4):287-92. doi: 10.1046/j.1365-2273.2000.00364.x. PMID: 10971535

Clinical prediction guides

Resuli AS, Dilber M, Bayar Muluk N, Cingi C
Eur Rev Med Pharmacol Sci 2023 Mar;27(2 Suppl):8-13. doi: 10.26355/eurrev_202303_31695. PMID: 36971215
Kang SH, Moon SH, Kim HS
Dermatol Surg 2020 May;46(5):664-670. doi: 10.1097/DSS.0000000000002146. PMID: 31517664
Ürményi GL, Felzemburgh VA, Fernandes EC, Peixoto ARLF
J Craniofac Surg 2018 Sep;29(6):1457-1462. doi: 10.1097/SCS.0000000000004712. PMID: 30028395
Bennun RD, Harfin JH
J Craniofac Surg 2018 Sep;29(6):1441-1444. doi: 10.1097/SCS.0000000000004756. PMID: 30015740
Kim EK, Daniel RK
Aesthet Surg J 2012 Nov;32(8):1018-30. doi: 10.1177/1090820X12462716. PMID: 23110932

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