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Pontine tegmental cap dysplasia(PTCD)

MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
Synonym: PTCD
SNOMED CT: Pontine tegmental cap dysplasia (782884005); PTCD - pontine tegmental cap dysplasia (782884005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0013858
OMIM®: 614688
Orphanet: ORPHA269229

Definition

Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007). [from OMIM]

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
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.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
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.
Head titubation
MedGen UID:
299071
Concept ID:
C1608410
Sign or Symptom
A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
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 cancelation of the vestibulo-ocular reflex.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Pontine tegmental cap
MedGen UID:
1390264
Concept ID:
C4476888
Anatomical Abnormality
An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Aspiration
MedGen UID:
751786
Concept ID:
C2712334
Finding
Inspiration of a foreign object into the airway.
Impaired mastication
MedGen UID:
66779
Concept ID:
C0239043
Finding
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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.
Decreased corneal sensation
MedGen UID:
488834
Concept ID:
C0271292
Disease or Syndrome
Reduced ability of the cornea to respond to stimulation.
Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPontine tegmental cap dysplasia
Follow this link to review classifications for Pontine tegmental cap dysplasia in Orphanet.

Professional guidelines

PubMed

Kalhorn AJ, Tawse KL, Shah AA, Jung JL, Gregory DG, McCourt EA
Cornea 2018 Jul;37(7):912-915. doi: 10.1097/ICO.0000000000001512. PMID: 29324584
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100

Recent clinical studies

Etiology

Blondiaux E, Valence S, Friszer S, Rodriguez D, Burglen L, Ducou le Pointe H, Blouet M, Garel C
Fetal Diagn Ther 2019;45(3):197-204. Epub 2017 Jul 5 doi: 10.1159/000475989. PMID: 28675887
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Desai NK, Young L, Miranda MA, Kutz JW Jr, Roland PS, Booth TN
Otolaryngol Head Neck Surg 2011 Dec;145(6):992-8. Epub 2011 Jun 25 doi: 10.1177/0194599811412729. PMID: 21705787
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group, Rossi A, Valente EM
Orphanet J Rare Dis 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. PMID: 21651769Free PMC Article
Bacciu A, Ormitti F, Pasanisi E, Vincenti V, Zanetti D, Bacciu S
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):962-6. doi: 10.1016/j.ijporl.2010.05.016. PMID: 20627414

Diagnosis

Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS
BMJ Case Rep 2023 Nov 22;16(11) doi: 10.1136/bcr-2022-253556. PMID: 37993144Free PMC Article
Mehner LC, Jung JL, Maloney JA, McCourt EA
Cornea 2020 Dec;39(12):1516-1519. doi: 10.1097/ICO.0000000000002361. PMID: 32398424
Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, Apeshiotis S, Leipoldt M, Kalache KD, Morris-Rosendahl D, Boltshauser E, Chen W, Kaindl AM
J Child Neurol 2017 Mar;32(3):334-340. Epub 2016 Dec 20 doi: 10.1177/0883073816680748. PMID: 28193110
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961
Nixon JN, Dempsey JC, Doherty D, Ishak GE
Neuroradiology 2016 Feb;58(2):179-87. Epub 2015 Oct 12 doi: 10.1007/s00234-015-1604-7. PMID: 26458891

Therapy

Fausto R, Ceccuzzi R, Micheletti E, Clerici R, Riva I, Katsanos A, Oddone F, Quaranta L
Medicine (Baltimore) 2020 Jul 24;99(30):e20816. doi: 10.1097/MD.0000000000020816. PMID: 32791670Free PMC Article
Kalhorn AJ, Tawse KL, Shah AA, Jung JL, Gregory DG, McCourt EA
Cornea 2018 Jul;37(7):912-915. doi: 10.1097/ICO.0000000000001512. PMID: 29324584

Prognosis

Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS
BMJ Case Rep 2023 Nov 22;16(11) doi: 10.1136/bcr-2022-253556. PMID: 37993144Free PMC Article
Priyanka C, Rangasami R, Suresh I
Neurol India 2022 Jul-Aug;70(4):1652-1654. doi: 10.4103/0028-3886.355094. PMID: 36076676
Nixon JN, Dempsey JC, Doherty D, Ishak GE
Neuroradiology 2016 Feb;58(2):179-87. Epub 2015 Oct 12 doi: 10.1007/s00234-015-1604-7. PMID: 26458891
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Desai NK, Young L, Miranda MA, Kutz JW Jr, Roland PS, Booth TN
Otolaryngol Head Neck Surg 2011 Dec;145(6):992-8. Epub 2011 Jun 25 doi: 10.1177/0194599811412729. PMID: 21705787

Clinical prediction guides

Fausto R, Ceccuzzi R, Micheletti E, Clerici R, Riva I, Katsanos A, Oddone F, Quaranta L
Medicine (Baltimore) 2020 Jul 24;99(30):e20816. doi: 10.1097/MD.0000000000020816. PMID: 32791670Free PMC Article

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