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Congenital heart defects and ectodermal dysplasia(CHDED)

MedGen UID:
1387409
Concept ID:
C4479250
Disease or Syndrome
Synonym: CHDED
 
Gene (location): PRKD1 (14q12)
 
Monarch Initiative: MONDO:0044303
OMIM®: 617364

Definition

Congenital heart defects and ectodermal dysplasia (CHDED) is a rare disorder characterized by these cardinal features, with additional variable features of microcephaly, craniofacial or skeletal dysmorphism, feeding difficulties, or hypotonia (Sifrim et al., 2016). [from OMIM]

Clinical features

From HPO
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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.
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.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Premature loss of primary teeth
MedGen UID:
585520
Concept ID:
C0399385
Disease or Syndrome
Loss of the primary (also known as deciduous) teeth before the usual age.
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).
Medial flaring of the eyebrow
MedGen UID:
336722
Concept ID:
C1844562
Finding
An abnormal distribution of eyebrow hair growth in the medial direction.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
High anterior hairline
MedGen UID:
477667
Concept ID:
C3276036
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Fragile nails
MedGen UID:
341661
Concept ID:
C1856963
Finding
Nails that easily break.
Deep plantar creases
MedGen UID:
341890
Concept ID:
C1857953
Finding
The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Yi JS, Perla S, Bennett AM
Cardiovasc Drugs Ther 2023 Dec;37(6):1193-1204. Epub 2022 Feb 14 doi: 10.1007/s10557-022-07324-0. PMID: 35156148
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article

Recent clinical studies

Etiology

Papadopoulou A, Bountouvi E
Front Endocrinol (Lausanne) 2023;14:1231828. Epub 2023 Oct 27 doi: 10.3389/fendo.2023.1231828. PMID: 37964950Free PMC Article
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Olsen GM, Nackers A, Drolet BA
Semin Pediatr Surg 2020 Oct;29(5):150969. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150969. PMID: 33069287
Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article

Diagnosis

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF
J Am Acad Dermatol 2021 Dec;85(6):1379-1392. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.019. PMID: 34419524
Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article
Tartaglia M, Gelb BD, Zenker M
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. PMID: 21396583Free PMC Article

Therapy

Costanza F, Papi G, Corrado S, Pontecorvi A
Front Endocrinol (Lausanne) 2023;14:1243540. Epub 2023 Oct 4 doi: 10.3389/fendo.2023.1243540. PMID: 37859990Free PMC Article
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Winter PR, Itinteang T, Leadbitter P, Tan ST
Acta Paediatr 2016 Feb;105(2):145-53. Epub 2015 Nov 27 doi: 10.1111/apa.13242. PMID: 26469095
Hoeger PH, Harper JI, Baselga E, Bonnet D, Boon LM, Ciofi Degli Atti M, El Hachem M, Oranje AP, Rubin AT, Weibel L, Léauté-Labrèze C
Eur J Pediatr 2015 Jul;174(7):855-65. Epub 2015 May 29 doi: 10.1007/s00431-015-2570-0. PMID: 26021855
Day A, Abramson AK, Patel M, Warren RB, Menter MA
J Am Acad Dermatol 2014 May;70(5):821.e1-19. doi: 10.1016/j.jaad.2013.12.019. PMID: 24742849

Prognosis

Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G
Genes (Basel) 2023 Nov 22;14(12) doi: 10.3390/genes14122111. PMID: 38136934Free PMC Article
Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Philip N, Sigaudy S
J Med Genet 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. PMID: 9541110Free PMC Article

Clinical prediction guides

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Coi A, Barisic I, Garne E, Pierini A, Addor MC, Aizpurua Atxega A, Ballardini E, Braz P, Broughan JM, Cavero-Carbonell C, de Walle HEK, Draper ES, Gatt M, Häusler M, Kinsner-Ovaskainen A, Kurinczuk JJ, Lelong N, Luyt K, Mezzasalma L, Mullaney C, Nelen V, Odak L, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiśniewska K, Yevtushok L, Santoro M
J Eur Acad Dermatol Venereol 2023 Mar;37(3):581-589. Epub 2022 Nov 11 doi: 10.1111/jdv.18690. PMID: 36300660
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):478-493. Epub 2022 Dec 14 doi: 10.1002/ajmg.c.32019. PMID: 36515923
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L
Eur J Med Genet 2022 May;65(5):104501. Epub 2022 Apr 1 doi: 10.1016/j.ejmg.2022.104501. PMID: 35378319
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article

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