TRICHORRHEXIS NODOSA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: POLLITT SYNDROME
TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME
Number of Symptoms 31
OrphanetNr:
OMIM Id: 275550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000278) Retrognathia 100 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0100018) Nuclear cataract 14 / 7739
4
(HPO:0008003) Jerky ocular pursuit movements 4 / 7739
5
(HPO:0000411) Protruding ear 140 / 7739
6
(HPO:0003487) Babinski sign 179 / 7739
7
(HPO:0001264) Spastic diplegia 24 / 7739
8
(HPO:0002599) Head titubation 7 / 7739
9
(HPO:0001284) Areflexia 198 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001510) Growth delay 295 / 7739
12
(HPO:0002224) Woolly hair 26 / 7739
13
(HPO:0009886) Trichorrhexis nodosa 12 / 7739
14
(HPO:0001598) Concave nail 14 / 7739
15
(HPO:0008064) Ichthyosis 108 / 7739
16
(HPO:0001792) Small nail 55 / 7739
17
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
18
(HPO:0000964) Eczema 81 / 7739
19
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
20
(HPO:0001252) Muscular hypotonia 990 / 7739
21
(HPO:0010547) Muscle flaccidity 466 / 7739
22
(HPO:0001324) Muscle weakness 859 / 7739
23
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
(OMIM) Reduced hair cystine 1 / 7739
25
(HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
26
(OMIM) Abnormal cerebral cortical cell layering 1 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) Flexural eczema 1 / 7739
29
(OMIM) Central nuclear cataracts 1 / 7739
30
(OMIM) Short, woolly hair 1 / 7739
31
(OMIM) Stubby eyebrow hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Price et al. (1980) suggested the designation trichothiodystrophy (TTD) to describe brittle hair with reduced sulfur content. The disorder bears some resemblance to that reported in the Amish and called here hair-brain syndrome (234050). Also see Netherton syndrome ...
Molecular genetics OMIM In 2 cases of Sabinas syndrome and 1 case of Pollitt syndrome, Nakabayashi et al. (2005) failed to find mutation in the C7ORF11 gene (609188), mutations in which were found in other nonphotosensitive TTD cases with mental retardation ...