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Psychomotor retardation, epilepsy, and craniofacial dysmorphism(NEDHCS)

MedGen UID:
482685
Concept ID:
C3281055
Disease or Syndrome
Synonyms: NEDHCS; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES
 
Gene (location): SNIP1 (1p34.3)
 
Monarch Initiative: MONDO:0013787
OMIM®: 614501

Definition

Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an autosomal recessive syndrome characterized primarily by hypotonia and poor feeding apparent in early infancy. Affected individuals have severe global developmental delay, early-onset intractable seizures, and recognizable craniofacial dysmorphism with skull abnormalities. The disorder is believed to be unique to the Amish population, where it exhibits a founder effect (summary by Ammous et al., 2021). [from OMIM]

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
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.
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.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Abnormal cerebral white matter morphology
MedGen UID:
181756
Concept ID:
C0948163
Pathologic Function
An abnormality of the cerebral white matter.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
CNS hypomyelination
MedGen UID:
892446
Concept ID:
C4025616
Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
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.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Broad jaw
MedGen UID:
482689
Concept ID:
C3281059
Finding
Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).
Subglottic stenosis
MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
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.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Recent clinical studies

Etiology

Prescrire Int 2009 Dec;18(104):253-7. PMID: 20025093
Sabatino G, Verrotti A, Domizio S, Angeiozzi B, Chiarelli F, Neri G
Childs Nerv Syst 1997 Apr;13(4):238-41. doi: 10.1007/s003810050075. PMID: 9202862

Diagnosis

Graziani L, Cinnirella G, Ferradini V, Conte C, Bascio FL, Bengala M, Sangiuolo F, Novelli G
Am J Med Genet A 2023 Jun;191(6):1565-1569. Epub 2023 Feb 21 doi: 10.1002/ajmg.a.63157. PMID: 36810952
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A
Am J Med Genet A 2016 Aug;170(8):2181-5. Epub 2016 May 12 doi: 10.1002/ajmg.a.37727. PMID: 27170158
Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J
Brain Dev 2015 Mar;37(3):356-8. Epub 2014 May 21 doi: 10.1016/j.braindev.2014.05.002. PMID: 24856766
Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A
J Child Neurol 2000 Jun;15(6):380-5. doi: 10.1177/088307380001500605. PMID: 10868780
Roccella M
Minerva Pediatr 1999 Jul-Aug;51(7-8):271-8. PMID: 10634060

Therapy

Hadouiri N, Darmency V, Guibaud L, Arzimanoglou A, Sorlin A, Carmignac V, Rivière JB, Huet F, Luu M, Bardou M, Thauvin-Robinet C, Vabres P, Faivre L
Eur J Med Genet 2020 Nov;63(11):104036. Epub 2020 Aug 14 doi: 10.1016/j.ejmg.2020.104036. PMID: 32805448
Prescrire Int 2009 Dec;18(104):253-7. PMID: 20025093
Aeby A, Sznajer Y, Cavé H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P
J Inherit Metab Dis 2007 Oct;30(5):827. Epub 2007 Aug 20 doi: 10.1007/s10545-007-0612-0. PMID: 17703371

Prognosis

Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
J Child Neurol 2008 Mar;23(3):274-8. Epub 2008 Jan 29 doi: 10.1177/0883073807309231. PMID: 18230842
Sabatino G, Verrotti A, Domizio S, Angeiozzi B, Chiarelli F, Neri G
Childs Nerv Syst 1997 Apr;13(4):238-41. doi: 10.1007/s003810050075. PMID: 9202862

Clinical prediction guides

Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A
Am J Med Genet A 2016 Aug;170(8):2181-5. Epub 2016 May 12 doi: 10.1002/ajmg.a.37727. PMID: 27170158
Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J
Brain Dev 2015 Mar;37(3):356-8. Epub 2014 May 21 doi: 10.1016/j.braindev.2014.05.002. PMID: 24856766
Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
J Child Neurol 2008 Mar;23(3):274-8. Epub 2008 Jan 29 doi: 10.1177/0883073807309231. PMID: 18230842
Temtamy SA, Aglan MS, Ashour AM, Zaki MS
Clin Dysmorphol 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. PMID: 17551326
Roccella M
Minerva Pediatr 1999 Jul-Aug;51(7-8):271-8. PMID: 10634060

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