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Paine syndrome

MedGen UID:
234691
Concept ID:
C1412041
Disease or Syndrome
Synonym: Microcephaly with spastic diplegia
 
Monarch Initiative: MONDO:0010707
OMIM®: 311400

Definition

Mental retardation, microcephaly, spastic diplegia, seizures, and mild aminoaciduria are the principal features. Seemanova syndrome 1 and Paine syndrome are considered as variants of the same entity termed Paine-Seemanova syndrome. [from MCA/MR]

Clinical features

From HPO
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Olivopontocerebellar hypoplasia
MedGen UID:
349144
Concept ID:
C1859341
Finding
Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines

PubMed

Moye V, Cathcart S, Burkhart CN, Morrell DS
Dermatol Ther 2013 Nov-Dec;26(6):445-51. doi: 10.1111/dth.12105. PMID: 24552407

Recent clinical studies

Etiology

Manuskiatti W, Iamphonrat T, Wanitphakdeedecha R, Eimpunth S
Dermatol Surg 2013 Jan;39(1 Pt 1):111-20. Epub 2012 Dec 3 doi: 10.1111/dsu.12030. PMID: 23205717

Diagnosis

Moye V, Cathcart S, Burkhart CN, Morrell DS
Dermatol Ther 2013 Nov-Dec;26(6):445-51. doi: 10.1111/dth.12105. PMID: 24552407

Therapy

Moye V, Cathcart S, Burkhart CN, Morrell DS
Dermatol Ther 2013 Nov-Dec;26(6):445-51. doi: 10.1111/dth.12105. PMID: 24552407
Manuskiatti W, Iamphonrat T, Wanitphakdeedecha R, Eimpunth S
Dermatol Surg 2013 Jan;39(1 Pt 1):111-20. Epub 2012 Dec 3 doi: 10.1111/dsu.12030. PMID: 23205717

Prognosis

Manuskiatti W, Iamphonrat T, Wanitphakdeedecha R, Eimpunth S
Dermatol Surg 2013 Jan;39(1 Pt 1):111-20. Epub 2012 Dec 3 doi: 10.1111/dsu.12030. PMID: 23205717

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