U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pallister-Hall syndrome(PHS)

MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
Synonyms: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; PHS
SNOMED CT: Pallister-Hall syndrome (56677004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): GLI3 (7p14.1)
 
Monarch Initiative: MONDO:0007804
OMIM®: 146510
Orphanet: ORPHA672

Definition

GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency. [from GeneReviews]

Additional descriptions

From OMIM
Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).  http://www.omim.org/entry/146510
From MedlinePlus Genetics
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any health problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.  https://medlineplus.gov/genetics/condition/pallister-hall-syndrome

Clinical features

From HPO
Midline facial capillary hemangioma
MedGen UID:
333532
Concept ID:
C1840310
Finding
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Distal urethral duplication
MedGen UID:
870199
Concept ID:
C4024634
Anatomical Abnormality
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Mesomelia
MedGen UID:
107808
Concept ID:
C0549306
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Distal shortening of limbs
MedGen UID:
327072
Concept ID:
C1840307
Finding
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Y-shaped metacarpals
MedGen UID:
348341
Concept ID:
C1861373
Finding
Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
Mesoaxial foot polydactyly
MedGen UID:
866976
Concept ID:
C4021333
Congenital Abnormality
The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
Mesoaxial hand polydactyly
MedGen UID:
893020
Concept ID:
C4021606
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Preductal coarctation of the aorta
MedGen UID:
539555
Concept ID:
C0265878
Congenital Abnormality
Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Atresia of the external auditory canal
MedGen UID:
78613
Concept ID:
C0266597
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Holoprosencephaly sequence
MedGen UID:
38214
Concept ID:
C0079541
Congenital Abnormality
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.\n\nNonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.\n\nPeople with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).\n\nSome individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.\n\nMost people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.
Panhypopituitarism
MedGen UID:
69171
Concept ID:
C0242343
Disease or Syndrome
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Radial head subluxation
MedGen UID:
56213
Concept ID:
C0149977
Injury or Poisoning
Partial dislocation of the head of the radius.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Bifid epiglottis
MedGen UID:
137932
Concept ID:
C0339864
Congenital Abnormality
A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
A developmental defect in the formation of pulmonary lobes.
Hypoplasia of the epiglottis
MedGen UID:
235600
Concept ID:
C1396772
Congenital Abnormality
Hypoplasia of the epiglottis.
Laryngeal cleft
MedGen UID:
327075
Concept ID:
C1840311
Congenital Abnormality
Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Microglossia
MedGen UID:
10029
Concept ID:
C0025988
Congenital Abnormality
Decreased length and width of the tongue.
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Thyroid dysgenesis
MedGen UID:
289647
Concept ID:
C1563716
Congenital Abnormality
A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.
Decreased circulating cortisol level
MedGen UID:
322961
Concept ID:
C1836623
Finding
Abnormally reduced concentration of cortisol in the blood.
Adrenal hypoplasia
MedGen UID:
337539
Concept ID:
C1846223
Pathologic Function
Developmental hypoplasia of the adrenal glands.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPallister-Hall syndrome
Follow this link to review classifications for Pallister-Hall syndrome in Orphanet.

Professional guidelines

PubMed

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A
Endocr Dev 2009;14:114-34. Epub 2009 Feb 27 doi: 10.1159/000207481. PMID: 19293579
Bannister CM, Russell SA, Rimmer S, Mowle DH
Eur J Pediatr Surg 1999 Dec;9 Suppl 1:27-8. doi: 10.1055/s-2008-1072308. PMID: 10661787

Recent clinical studies

Etiology

Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG
Clin Genet 2005 Jan;67(1):87-92. doi: 10.1111/j.1399-0004.2005.00370.x. PMID: 15617553
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104
Biesecker LG
Genet Med 2002 Nov-Dec;4(6 Suppl):39S-42S. doi: 10.1097/00125817-200211001-00008. PMID: 12544486

Diagnosis

McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS
Clin Genet 2017 Nov;92(5):457-466. Epub 2017 Feb 22 doi: 10.1111/cge.12952. PMID: 28224613
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Hayek F
J Med Case Rep 2018 Nov 29;12(1):354. doi: 10.1186/s13256-018-1868-8. PMID: 30486853Free PMC Article
Wakamoto H, Sumi A, Motoki T, Ohmori H
Brain Dev 2010 Sep;32(8):677-80. Epub 2009 Sep 29 doi: 10.1016/j.braindev.2009.09.003. PMID: 19793630
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A
Endocr Dev 2009;14:114-34. Epub 2009 Feb 27 doi: 10.1159/000207481. PMID: 19293579
Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B
Am J Med Genet 2001 Mar 1;99(2):128-31. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1128>3.0.co;2-s. PMID: 11241471
Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N
Am J Med Genet 1992 Jan 1;42(1):44-50. doi: 10.1002/ajmg.1320420111. PMID: 1308364

Prognosis

Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

Clinical prediction guides

McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA
Clin Genet 2021 Dec;100(6):758-765. Epub 2021 Sep 16 doi: 10.1111/cge.14059. PMID: 34482537
Naruse I, Ueta E, Sumino Y, Ogawa M, Ishikiriyama S
Congenit Anom (Kyoto) 2010 Mar;50(1):1-7. doi: 10.1111/j.1741-4520.2009.00266.x. PMID: 20201963
Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG
Clin Genet 2005 Jan;67(1):87-92. doi: 10.1111/j.1399-0004.2005.00370.x. PMID: 15617553
Biesecker LG, Kang S, Schäffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Olney A, Graham JM Jr
J Med Genet 1996 Nov;33(11):947-51. doi: 10.1136/jmg.33.11.947. PMID: 8950676Free PMC Article

Recent systematic reviews

Nakamura H, Puri P
Pediatr Surg Int 2020 Jan;36(1):21-24. Epub 2019 Sep 24 doi: 10.1007/s00383-019-04580-4. PMID: 31552492
Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...