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Neurodevelopmental disorder with poor growth and behavioral abnormalities(NEDGBA)

MedGen UID:
1840909
Concept ID:
C5830273
Disease or Syndrome
Synonym: NEDGBA
 
Gene (location): ATP9A (20q13.2)
 
Monarch Initiative: MONDO:0859377
OMIM®: 620242

Definition

Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023). [from OMIM]

Clinical features

From HPO
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Decreased patellar reflex
MedGen UID:
478814
Concept ID:
C3277184
Finding
Decreased intensity of the patellar reflex (also known as the knee jerk reflex).
Atrial septal defect, ostium secundum type
MedGen UID:
91034
Concept ID:
C0344724
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Nausea and vomiting
MedGen UID:
45015
Concept ID:
C0027498
Sign or Symptom
Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
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.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Finding
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Dysphoria
MedGen UID:
535319
Concept ID:
C0233477
Mental or Behavioral Dysfunction
A state of feeling very unhappy, uneasy, or dissatisfied.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
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.
Receptive language delay
MedGen UID:
451061
Concept ID:
C0454642
Finding
A delay in the acquisition of the ability to understand the speech of others.
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.
Poor coordination
MedGen UID:
107874
Concept ID:
C0563243
Finding
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
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\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\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.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Poor fine motor coordination
MedGen UID:
356863
Concept ID:
C1867864
Finding
An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
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.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
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).
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).
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
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).
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.

Professional guidelines

PubMed

Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article

Recent clinical studies

Therapy

Schmidt B, Roberts RS, Anderson PJ, Asztalos EV, Costantini L, Davis PG, Dewey D, D'Ilario J, Doyle LW, Grunau RE, Moddemann D, Nelson H, Ohlsson A, Solimano A, Tin W; Caffeine for Apnea of Prematurity (CAP) Trial Group
JAMA Pediatr 2017 Jun 1;171(6):564-572. doi: 10.1001/jamapediatrics.2017.0238. PMID: 28437520
Kellam SG, Wang W, Mackenzie AC, Brown CH, Ompad DC, Or F, Ialongo NS, Poduska JM, Windham A
Prev Sci 2014 Feb;15 Suppl 1(0 1):S6-18. doi: 10.1007/s11121-012-0296-z. PMID: 23070695Free PMC Article
McEachern AD, Fosco GM, Dishion TJ, Shaw DS, Wilson MN, Gardner F
J Fam Psychol 2013 Apr;27(2):271-281. Epub 2013 Mar 4 doi: 10.1037/a0031485. PMID: 23458695Free PMC Article
Gardner F, Connell A, Trentacosta CJ, Shaw DS, Dishion TJ, Wilson MN
J Consult Clin Psychol 2009 Jun;77(3):543-553. doi: 10.1037/a0015622. PMID: 19485594Free PMC Article
Cannon IP, Compton CL
Pediatr Clin North Am 1980 Feb;27(1):79-96. doi: 10.1016/s0031-3955(16)33821-4. PMID: 6990365

Prognosis

Papachristou E, Flouri E
J Affect Disord 2020 Nov 1;276:1052-1060. Epub 2020 Jul 31 doi: 10.1016/j.jad.2020.07.130. PMID: 32768877
Schmidt B, Roberts RS, Anderson PJ, Asztalos EV, Costantini L, Davis PG, Dewey D, D'Ilario J, Doyle LW, Grunau RE, Moddemann D, Nelson H, Ohlsson A, Solimano A, Tin W; Caffeine for Apnea of Prematurity (CAP) Trial Group
JAMA Pediatr 2017 Jun 1;171(6):564-572. doi: 10.1001/jamapediatrics.2017.0238. PMID: 28437520
Flouri E, Ruddy A, Midouhas E
Psychol Med 2017 Apr;47(6):1138-1148. Epub 2016 Dec 20 doi: 10.1017/S0033291716003226. PMID: 27995842
Oh W, Muzik M, McGinnis EW, Hamilton L, Menke RA, Rosenblum KL
J Affect Disord 2016 Aug;200:133-41. Epub 2016 Apr 20 doi: 10.1016/j.jad.2016.04.037. PMID: 27131504Free PMC Article
Kellam SG, Wang W, Mackenzie AC, Brown CH, Ompad DC, Or F, Ialongo NS, Poduska JM, Windham A
Prev Sci 2014 Feb;15 Suppl 1(0 1):S6-18. doi: 10.1007/s11121-012-0296-z. PMID: 23070695Free PMC Article

Clinical prediction guides

Papachristou E, Flouri E
J Affect Disord 2020 Nov 1;276:1052-1060. Epub 2020 Jul 31 doi: 10.1016/j.jad.2020.07.130. PMID: 32768877
Gordon JM, Gaffney K, Smith S, Lauerer JA
J Child Adolesc Psychiatr Nurs 2020 Feb;33(1):24-29. Epub 2019 Nov 27 doi: 10.1111/jcap.12260. PMID: 31774214
Flouri E, Papachristou E, Midouhas E, Joshi H, Ploubidis GB, Lewis G
Eur Child Adolesc Psychiatry 2018 Dec;27(12):1595-1605. Epub 2018 Apr 16 doi: 10.1007/s00787-018-1155-7. PMID: 29663072Free PMC Article
Flouri E, Ruddy A, Midouhas E
Psychol Med 2017 Apr;47(6):1138-1148. Epub 2016 Dec 20 doi: 10.1017/S0033291716003226. PMID: 27995842
Lin JJ, Siddarth P, Riley JD, Gurbani SG, Ly R, Yee VW, Levitt JG, Toga AW, Caplan R
Epilepsia 2013 Dec;54(12):2116-24. Epub 2013 Nov 8 doi: 10.1111/epi.12428. PMID: 24304435Free PMC Article

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