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Slender nose

MedGen UID:
347514
Concept ID:
C1857645
Finding
HPO: HP:0000417

Term Hierarchy

Conditions with this feature

Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Rapadilino syndrome
MedGen UID:
336602
Concept ID:
C1849453
Disease or Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.\n\nMost affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.\n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.\n\nSome individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.\n\nThe condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.\n\nThe varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
MedGen UID:
815784
Concept ID:
C3809454
Disease or Syndrome
Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies See also IHPRF2 (616801), caused by mutation in the UNC80 gene (612636) on chromosome 2q34; and IHPRF3 (616900), caused by mutation in the TBCK gene (616899) on chromosome 4q24.

Recent clinical studies

Etiology

Cao Y, Liu Z, Liu Z, Wang S, Xie L
Int J Comput Assist Radiol Surg 2023 Apr;18(4):753-761. Epub 2022 Dec 29 doi: 10.1007/s11548-022-02820-y. PMID: 36580208
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
Mechtersheimer G, Andrulis M, Delank KW, Volckmar AL, Zhang L, von Winterfeld M, Stenzinger A, R Antonescu C
Genes Chromosomes Cancer 2021 Aug;60(8):565-570. Epub 2021 Apr 10 doi: 10.1002/gcc.22948. PMID: 33715240Free PMC Article
Ballin AC, Kim H, Chance E, Davis RE
Facial Plast Surg 2016 Aug;32(4):384-97. Epub 2016 Aug 5 doi: 10.1055/s-0036-1585573. PMID: 27494582
Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778Free PMC Article

Diagnosis

Pekpak Sahinoglu E, Oren AC, Sahinoglu B, Gumus U, Akbayram S
J Pediatr Hematol Oncol 2024 Mar 1;46(2):e199-e201. Epub 2023 Dec 18 doi: 10.1097/MPH.0000000000002798. PMID: 38113221
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Am J Med Genet A 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. PMID: 20503305
Whitaker SR, Sprinkle PM, Chou SM
Arch Otolaryngol 1981 Sep;107(9):550-4. doi: 10.1001/archotol.1981.00790450026009. PMID: 7271553

Therapy

Pourfakhr P, Ahangari A, Etezadi F, Moharari RS, Ahmadi A, Saeedi N, Najafi A
Anesth Analg 2018 May;126(5):1641-1645. doi: 10.1213/ANE.0000000000002853. PMID: 29401075
Ballin AC, Kim H, Chance E, Davis RE
Facial Plast Surg 2016 Aug;32(4):384-97. Epub 2016 Aug 5 doi: 10.1055/s-0036-1585573. PMID: 27494582
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. PMID: 20186812
Oruckaptan HH, Akdemir P, Ozgen T
Surg Neurol 2000 Feb;53(2):174-7. doi: 10.1016/s0090-3019(99)00189-5. PMID: 10713197

Prognosis

Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Yang X, Zeng Y, Wang J
Int J Surg Pathol 2013 Feb;21(1):22-8. Epub 2012 Jul 25 doi: 10.1177/1066896912454566. PMID: 22832113
Rivera H, Domínguez MG, Matute E
Genet Couns 2006;17(4):401-5. PMID: 17375525
Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G
Arch Dermatol 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. PMID: 15897384
Jacobi HH, Liang Y, Tingsgaard PK, Larsen PL, Poulsen LK, Skov PS, Haak-Frendscho M, Niles AL, Johansson O
Lab Invest 1998 Sep;78(9):1179-84. PMID: 9759661

Clinical prediction guides

Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
Ballin AC, Kim H, Chance E, Davis RE
Facial Plast Surg 2016 Aug;32(4):384-97. Epub 2016 Aug 5 doi: 10.1055/s-0036-1585573. PMID: 27494582
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Am J Med Genet A 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. PMID: 20503305
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. PMID: 20186812
Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N
Pediatr Cardiol 2005 Sep-Oct;26(5):570-3. doi: 10.1007/s00246-004-0775-5. PMID: 16132309

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