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Intellectual developmental disorder with or without peripheral neuropathy(IDDPN)

MedGen UID:
1807523
Concept ID:
C5676969
Disease or Syndrome
Synonym: IDDPN
 
Gene (location): NUDT2 (9p13.3)
 
Monarch Initiative: MONDO:0859240
OMIM®: 619844

Definition

Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Some patients develop a progressive length-dependent sensorimotor peripheral neuropathy. Additional features may include dysarthria and subtle dysmorphic facial features (Diaz et al., 2020). [from OMIM]

Clinical features

From HPO
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Intellectual disability, borderline
MedGen UID:
507499
Concept ID:
C0006009
Finding
Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Eye of the tiger anomaly of globus pallidus
MedGen UID:
871224
Concept ID:
C4025705
Finding
The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
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.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
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 below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.

Professional guidelines

PubMed

Castelli G, Desai KM, Cantone RE
Am Fam Physician 2020 Dec 15;102(12):732-739. PMID: 33320513
Campbell KL, Winters-Stone KM, Wiskemann J, May AM, Schwartz AL, Courneya KS, Zucker DS, Matthews CE, Ligibel JA, Gerber LH, Morris GS, Patel AV, Hue TF, Perna FM, Schmitz KH
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Spine J 2014 Jan;14(1):180-91. Epub 2013 Nov 14 doi: 10.1016/j.spinee.2013.08.003. PMID: 24239490

Recent clinical studies

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Diagnosis

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Nat Rev Endocrinol 2021 Jul;17(7):400-420. Epub 2021 May 28 doi: 10.1038/s41574-021-00496-z. PMID: 34050323
Castelli G, Desai KM, Cantone RE
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Siao P, Kaku M
Semin Neurol 2019 Oct;39(5):519-530. Epub 2019 Oct 22 doi: 10.1055/s-0039-1694747. PMID: 31639835
Selvarajah D, Kar D, Khunti K, Davies MJ, Scott AR, Walker J, Tesfaye S
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Prognosis

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Recent systematic reviews

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