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Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies(NSDVS2; NEDMACE)

MedGen UID:
1714169
Concept ID:
C5394221
Disease or Syndrome
Synonym: NABAIS SA-DE VRIES SYNDROME, TYPE 2
 
Gene (location): SPOP (17q21.33)
 
Monarch Initiative: MONDO:0032943
OMIM®: 618829

Definition

Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020). [from OMIM]

Clinical features

From HPO
Multicystic kidney dysplasia
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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).
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Hemiparesis
MedGen UID:
6783
Concept ID:
C0018989
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Bilateral cleft lip
MedGen UID:
451046
Concept ID:
C0392005
Congenital Abnormality
A non-midline cleft of the upper lip on the left and right sides.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Thin vermilion border
MedGen UID:
108294
Concept ID:
C0578038
Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
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.
Large forehead
MedGen UID:
326962
Concept ID:
C1839783
Finding
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).
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Bilateral cleft palate
MedGen UID:
765998
Concept ID:
C3553084
Finding
Nonmidline cleft palate on the left and right sides.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Professional guidelines

PubMed

Douketis JD, Spyropoulos AC, Murad MH, Arcelus JI, Dager WE, Dunn AS, Fargo RA, Levy JH, Samama CM, Shah SH, Sherwood MW, Tafur AJ, Tang LV, Moores LK
Chest 2022 Nov;162(5):e207-e243. Epub 2022 Aug 11 doi: 10.1016/j.chest.2022.07.025. PMID: 35964704
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Flynn JT, Kaelber DC, Baker-Smith CM, Blowey D, Carroll AE, Daniels SR, de Ferranti SD, Dionne JM, Falkner B, Flinn SK, Gidding SS, Goodwin C, Leu MG, Powers ME, Rea C, Samuels J, Simasek M, Thaker VV, Urbina EM; SUBCOMMITTEE ON SCREENING AND MANAGEMENT OF HIGH BLOOD PRESSURE IN CHILDREN
Pediatrics 2017 Sep;140(3) Epub 2017 Aug 21 doi: 10.1542/peds.2017-1904. PMID: 28827377

Recent clinical studies

Etiology

Kovilakath A, Jamil M, Cowart LA
Front Endocrinol (Lausanne) 2020;11:652. Epub 2020 Sep 15 doi: 10.3389/fendo.2020.00652. PMID: 33042014Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
Sharma S, Drezner JA, Baggish A, Papadakis M, Wilson MG, Prutkin JM, La Gerche A, Ackerman MJ, Borjesson M, Salerno JC, Asif IM, Owens DS, Chung EH, Emery MS, Froelicher VF, Heidbuchel H, Adamuz C, Asplund CA, Cohen G, Harmon KG, Marek JC, Molossi S, Niebauer J, Pelto HF, Perez MV, Riding NR, Saarel T, Schmied CM, Shipon DM, Stein R, Vetter VL, Pelliccia A, Corrado D
Eur Heart J 2018 Apr 21;39(16):1466-1480. doi: 10.1093/eurheartj/ehw631. PMID: 28329355
Sherin JE, Nemeroff CB
Dialogues Clin Neurosci 2011;13(3):263-78. doi: 10.31887/DCNS.2011.13.2/jsherin. PMID: 22034143Free PMC Article

Diagnosis

Seppä S, Kuiri-Hänninen T, Holopainen E, Voutilainen R
Eur J Endocrinol 2021 May 4;184(6):R225-R242. doi: 10.1530/EJE-20-1487. PMID: 33687345
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
de Gregorio C, Di Nunzio D, Di Bella G
Adv Exp Med Biol 2018;1067:313-325. doi: 10.1007/5584_2018_176. PMID: 29532331
van Weerd JH, Christoffels VM
Development 2016 Jan 15;143(2):197-210. doi: 10.1242/dev.124883. PMID: 26786210

Therapy

Bartlett RH
Anesthesiology 2024 Mar 1;140(3):578-584. doi: 10.1097/ALN.0000000000004843. PMID: 38349754
Grapsa J, Praz F, Sorajja P, Cavalcante JL, Sitges M, Taramasso M, Piazza N, Messika-Zeitoun D, Michelena HI, Hamid N, Dreyfus J, Benfari G, Argulian E, Chieffo A, Tchetche D, Rudski L, Bax JJ, Stephan von Bardeleben R, Patterson T, Redwood S, Bapat VN, Nickenig G, Lurz P, Hausleiter J, Kodali S, Hahn RT, Maisano F, Enriquez-Sarano M
JACC Cardiovasc Imaging 2024 Jan;17(1):79-95. Epub 2023 Sep 20 doi: 10.1016/j.jcmg.2023.08.013. PMID: 37731368
Kreutzer FP, Meinecke A, Schmidt K, Fiedler J, Thum T
Cardiovasc Res 2022 Feb 21;118(3):746-762. doi: 10.1093/cvr/cvab075. PMID: 33693475Free PMC Article
Kapelios CJ, Nanas JN, Malliaras K
Future Cardiol 2016 Jan;12(1):87-100. Epub 2015 Dec 21 doi: 10.2217/fca.15.72. PMID: 26696563
Verheugt FW, Visser FC, van der Wall EE, van Eenige MJ, Res JC, Roos JP
Postgrad Med J 1986 Nov;62(733):1007-10. doi: 10.1136/pgmj.62.733.1007. PMID: 3306639Free PMC Article

Prognosis

Gadula-Gacek E, Tajstra M, Niedziela J, Pyka Ł, Gąsior M
Am J Cardiol 2019 May 15;123(10):1637-1642. Epub 2019 Feb 25 doi: 10.1016/j.amjcard.2019.02.021. PMID: 30885418
Jahangiri M, Hussain A, Akowuah E
Heart 2019 Mar;105(Suppl 2):s10-s15. doi: 10.1136/heartjnl-2018-313512. PMID: 30846519
Sokalskis V, Muraru D, Fraccaro C, Napodano M, D'Onofrio A, Tarantini G, Badano LP
Echocardiography 2017 Feb;34(2):267-278. Epub 2017 Jan 3 doi: 10.1111/echo.13443. PMID: 28052455
San Román JA, Vilacosta I, López J, Sarriá C
J Am Coll Cardiol 2015 Sep 1;66(9):1068-76. doi: 10.1016/j.jacc.2015.07.016. PMID: 26314535
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195

Clinical prediction guides

Topriceanu CC, Pierce I, Moon JC, Captur G
Magn Reson Imaging 2022 Nov;93:15-32. Epub 2022 Jul 30 doi: 10.1016/j.mri.2022.07.012. PMID: 35914654
Painchaud N, Duchateau N, Bernard O, Jodoin PM
IEEE Trans Med Imaging 2022 Oct;41(10):2867-2878. Epub 2022 Sep 30 doi: 10.1109/TMI.2022.3173669. PMID: 35533176
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free PMC Article
Seetharam K, Lerakis S
F1000Res 2019;8 Epub 2019 Sep 13 doi: 10.12688/f1000research.19721.1. PMID: 31543951Free PMC Article
Calder AE, Hince MN, Dudakov JA, Chidgey AP, Boyd RL
Neuroimmunomodulation 2011;18(5):281-9. Epub 2011 Sep 22 doi: 10.1159/000329496. PMID: 21952680

Recent systematic reviews

Kulinski J, Ofori EK, Visotcky A, Smith A, Sparapani R, Fleg JL
Trends Cardiovasc Med 2022 Aug;32(6):390-398. Epub 2021 Jul 5 doi: 10.1016/j.tcm.2021.06.004. PMID: 34237410Free PMC Article
Abraham LN, Sibilitz KL, Berg SK, Tang LH, Risom SS, Lindschou J, Taylor RS, Borregaard B, Zwisler AD
Cochrane Database Syst Rev 2021 May 7;5(5):CD010876. doi: 10.1002/14651858.CD010876.pub3. PMID: 33962483Free PMC Article
Nair AR, Pillai AJ, Nair N
Curr Cardiol Rev 2021;17(4):e230421187681. doi: 10.2174/1573403X16666201106141811. PMID: 33155924Free PMC Article
Lei M, Wu L, Terrar DA, Huang CL
Circulation 2018 Oct 23;138(17):1879-1896. doi: 10.1161/CIRCULATIONAHA.118.035455. PMID: 30354657
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article

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