Pontine tegmental cap dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: PTCD
Number of Symptoms 53
OrphanetNr: 269229
OMIM Id: 614688
ICD-10: Q04.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Posterior fossa malformation
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0000508) Ptosis 459 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0000657) Oculomotor apraxia 54 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0000496) Abnormality of eye movement 79 / 7739
7
 (HPO:0012155) Decreased corneal sensation 5 / 7739
8
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
11
 (HPO:0000365) Hearing impairment 539 / 7739
12
 (HPO:0100660) Dyskinesia 19 / 7739
13
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
16
 (HPO:0001310) Dysmetria 76 / 7739
17
 (HPO:0001249) Intellectual disability hallmark [HPO:skoehler] 1089 / 7739
18
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
19
 (HPO:0005216) Chewing difficulties 6 / 7739
20
 (HPO:0001344) Absent speech 57 / 7739
21
 (HPO:0001251) Ataxia 413 / 7739
22
 (HPO:0002599) Head titubation 7 / 7739
23
 (HPO:0001347) Hyperreflexia 363 / 7739
24
 (HPO:0002015) Dysphagia 301 / 7739
25
 (HPO:0002267) Exaggerated startle response 42 / 7739
26
 (HPO:0011448) Ankle clonus rare [HPO:skoehler] 31 / 7739
27
 (HPO:0002650) Scoliosis 705 / 7739
28
 (HPO:0000902) Rib fusion 19 / 7739
29
 (HPO:0002937) Hemivertebrae 41 / 7739
30
 (HPO:0011968) Feeding difficulties 240 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0002835) Aspiration 11 / 7739
33
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0001324) Muscle weakness 859 / 7739
36
 (HPO:0010547) Muscle flaccidity 466 / 7739
37
 (HPO:0003812) Phenotypic variability 129 / 7739
38
 (OMIM) Abnormal 'cap' on the dorsal pons extending into the fourth ventricle 1 / 7739
39
 (OMIM) Ectopic dorsal pontine transverse bundle of fibers forms the 'cap' 1 / 7739
40
 (OMIM) Absence of the inferior olives 1 / 7739
41
 (OMIM) Decussation of the superior cerebellar peduncles 1 / 7739
42
 (OMIM) Easily frustrated 2 / 7739
43
 (OMIM) Aspiration due to orofacial incoordination 1 / 7739
44
 (OMIM) Behavioral abnormalities 3 / 7739
45
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
46
 (OMIM) Brain MRI shows flattening of the ventral pons 1 / 7739
47
 (OMIM) Emotional fragility 1 / 7739
48
 (OMIM) Poor or absent speech 2 / 7739
49
 (OMIM) Cranial nerve dysfunction 2 / 7739
50
 (OMIM) Vertebral abnormalities 2 / 7739
51
 (OMIM) Hypoplastic or absent middle cerebellar peduncles 1 / 7739
52
 (OMIM) No motor skills acquired (in some) 1 / 7739
53
 (MedDRA:10010984) Corneal abrasion 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Barth et al. (2007) reported 4 unrelated children with a neurologic disorder associated with a similar brainstem and cerebellar malformation on brain MRI. The patients, aged 2 to 7 years, had sensorineural deafness with poor or no speech, ...
Molecular genetics OMIM - Exclusion Studies

In 4 patients with PTCD, Barth et al. (2007) excluded mutations in the coding regions of the DCC (120470) and NTN1 (601614) genes. These genes were chosen for study because homozygous loss of ...