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Lymphedema-atrial septal defects-facial changes syndrome

MedGen UID:
383042
Concept ID:
C2677167
Disease or Syndrome
Synonyms: IRONS-BIANCHI SYNDROME; LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES; Lymphedema, cardiac septal defects, and characteristic facies
SNOMED CT: Lymphedema, atrial septal defect, facial changes syndrome (721978002); Irons Bianchi syndrome (721978002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0011166
OMIM®: 601927
Orphanet: ORPHA86915

Definition

This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Atrial flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
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.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
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.
Vascular ring
MedGen UID:
65131
Concept ID:
C0221214
Congenital Abnormality
A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
Overriding aorta
MedGen UID:
120559
Concept ID:
C0265886
Congenital Abnormality
An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
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.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Underdevelopment of the toenail.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Pekoz BC, Koc M, Kucukosmanoglu M, Koc AS, Koca H, Dönmez Y, Sumbul HE
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Diagnosis

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Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
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Clarke BE
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Therapy

Villalba JA, Hilburn CF, Garlin MA, Elliott GA, Li Y, Kunitoki K, Poli S, Alba GA, Madrigal E, Taso M, Price MC, Aviles AJ, Araujo-Medina M, Bonanno L, Boyraz B, Champion SN, Harris CK, Helland TL, Hutchison B, Jobbagy S, Marshall MS, Shepherd DJ, Barth JL, Hung YP, Ly A, Hariri LP, Turbett SE, Pierce VM, Branda JA, Rosenberg ES, Mendez-Pena J, Chebib I, Rosales IA, Smith RN, Miller MA, Rosas IO, Hardin CC, Baden LR, Medoff BD, Colvin RB, Little BP, Stone JR, Mino-Kenudson M, Shih AR
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Ketcham AS, Han JK
Otolaryngol Clin North Am 2010 Aug;43(4):897-904. doi: 10.1016/j.otc.2010.04.013. PMID: 20599092

Prognosis

Saper VE, Chen G, Deutsch GH, Guillerman RP, Birgmeier J, Jagadeesh K, Canna S, Schulert G, Deterding R, Xu J, Leung AN, Bouzoubaa L, Abulaban K, Baszis K, Behrens EM, Birmingham J, Casey A, Cidon M, Cron RQ, De A, De Benedetti F, Ferguson I, Fishman MP, Goodman SI, Graham TB, Grom AA, Haines K, Hazen M, Henderson LA, Ho A, Ibarra M, Inman CJ, Jerath R, Khawaja K, Kingsbury DJ, Klein-Gitelman M, Lai K, Lapidus S, Lin C, Lin J, Liptzin DR, Milojevic D, Mombourquette J, Onel K, Ozen S, Perez M, Phillippi K, Prahalad S, Radhakrishna S, Reinhardt A, Riskalla M, Rosenwasser N, Roth J, Schneider R, Schonenberg-Meinema D, Shenoi S, Smith JA, Sönmez HE, Stoll ML, Towe C, Vargas SO, Vehe RK, Young LR, Yang J, Desai T, Balise R, Lu Y, Tian L, Bejerano G, Davis MM, Khatri P, Mellins ED; Childhood Arthritis and Rheumatology Research Alliance Registry Investigators
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Clinical prediction guides

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Recent systematic reviews

Chen X, Zhang G, Hao SY, Bai L, Lu JJ
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Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
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