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Neurodevelopmental disorder with spasticity and poor growth(NEDSG)

MedGen UID:
1648309
Concept ID:
C4748081
Disease or Syndrome
Synonyms: NEDSG; NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
 
Gene (location): UFC1 (1q23.3)
 
Monarch Initiative: MONDO:0060752
OMIM®: 618076

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
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.
Clonus
MedGen UID:
40341
Concept ID:
C0009024
Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Abnormal cerebral white matter morphology
MedGen UID:
181756
Concept ID:
C0948163
Pathologic Function
An abnormality of the cerebral white matter.
Delayed myelination
MedGen UID:
224820
Concept ID:
C1277241
Finding
Delayed myelination.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.

Recent clinical studies

Etiology

Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article
Smits-Engelsman BC, Rameckers EA, Duysens J
Exp Brain Res 2007 Mar;177(4):431-9. Epub 2006 Sep 22 doi: 10.1007/s00221-006-0698-x. PMID: 17019607
Oskarsdóttir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P
Dev Med Child Neurol 2005 Mar;47(3):177-84. doi: 10.1017/s0012162205000320. PMID: 15739722

Diagnosis

Gund C, Powis Z, Alcaraz W, Desai S, Baranano K
Am J Med Genet A 2016 May;170A(5):1330-2. Epub 2016 Feb 2 doi: 10.1002/ajmg.a.37580. PMID: 26834045
Smits-Engelsman BC, Rameckers EA, Duysens J
Exp Brain Res 2007 Mar;177(4):431-9. Epub 2006 Sep 22 doi: 10.1007/s00221-006-0698-x. PMID: 17019607
Oskarsdóttir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P
Dev Med Child Neurol 2005 Mar;47(3):177-84. doi: 10.1017/s0012162205000320. PMID: 15739722
Pavone L, Rizzo R, Dobyns WB
Childs Nerv Syst 1993 Nov;9(7):387-90. doi: 10.1007/BF00306189. PMID: 8306352
Cole De, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR
J Craniofac Genet Dev Biol 1990;10(2):205-14. PMID: 2211966

Prognosis

Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA
J Pediatr 2021 Mar;230:55-61.e4. Epub 2020 Sep 21 doi: 10.1016/j.jpeds.2020.09.038. PMID: 32971146
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article
Smits-Engelsman BC, Rameckers EA, Duysens J
Exp Brain Res 2007 Mar;177(4):431-9. Epub 2006 Sep 22 doi: 10.1007/s00221-006-0698-x. PMID: 17019607

Clinical prediction guides

Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF
Am J Med Genet A 2016 Dec;170(12):3106-3114. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37929. PMID: 27513830Free PMC Article
Smits-Engelsman BC, Rameckers EA, Duysens J
Exp Brain Res 2007 Mar;177(4):431-9. Epub 2006 Sep 22 doi: 10.1007/s00221-006-0698-x. PMID: 17019607

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