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Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum(NEDEHCC)

MedGen UID:
1648487
Concept ID:
C4748137
Disease or Syndrome
Synonyms: NEDEHCC; NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
 
Gene (location): LNPK (2q31.1)
 
Monarch Initiative: MONDO:0060761
OMIM®: 618090

Clinical features

From HPO
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Tonic seizure
MedGen UID:
82855
Concept ID:
C0270844
Disease or Syndrome
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Vegetative state
MedGen UID:
182977
Concept ID:
C0917808
Pathologic Function
The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Delayed early-childhood social milestone development
MedGen UID:
868509
Concept ID:
C4022906
Finding
A failure to meet one or more age-related milestones of social behavior.
Delayed fine motor development
MedGen UID:
869257
Concept ID:
C4023681
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.

Professional guidelines

PubMed

Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113
Cakmak Celik F, Ozlu MM, Ceylaner S
Clin Neurol Neurosurg 2021 Mar;202:106506. Epub 2021 Jan 19 doi: 10.1016/j.clineuro.2021.106506. PMID: 33497949

Recent clinical studies

Etiology

Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Ebrahimi-Fakhari D
Neuropediatrics 2018 Feb;49(1):18-25. Epub 2017 Nov 7 doi: 10.1055/s-0037-1608652. PMID: 29112993
Margari L, Palumbi R, Campa MG, Operto FF, Buttiglione M, Craig F, Matricardi S, Verrotti A
J Neurol 2016 Oct;263(10):1939-45. Epub 2016 Jul 6 doi: 10.1007/s00415-016-8225-x. PMID: 27383641
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113
Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Yavuz Saricay L, Hoyek S, Ashit Parikh A, Baldwin G, Bodamer OA, Gonzalez E, Patel NA
Ophthalmic Genet 2023 Dec;44(6):591-594. Epub 2023 Feb 2 doi: 10.1080/13816810.2023.2172190. PMID: 36728747
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Therapy

Fu RH, Wu PY, Chou IC, Lin CH, Hong SY
Ital J Pediatr 2024 Jan 25;50(1):20. doi: 10.1186/s13052-024-01589-x. PMID: 38273353Free PMC Article
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. PMID: 23322667

Prognosis

Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E
Genes (Basel) 2021 Jun 27;12(7) doi: 10.3390/genes12070982. PMID: 34199024Free PMC Article
Gouvea LA, Martins M, Vivacqua D, Rosseto J, Lima G, Frota AC, Abreu T, Araujo A, Hofer CB
J Child Neurol 2021 Jun;36(7):537-544. Epub 2021 Jan 7 doi: 10.1177/0883073820983163. PMID: 33406966
Margari L, Palumbi R, Campa MG, Operto FF, Buttiglione M, Craig F, Matricardi S, Verrotti A
J Neurol 2016 Oct;263(10):1939-45. Epub 2016 Jul 6 doi: 10.1007/s00415-016-8225-x. PMID: 27383641
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Clinical prediction guides

Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. PMID: 37951597Free PMC Article
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC
J Med Genet 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. PMID: 37580113
Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

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