Intellectual deficit - sparse hair - brachydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SPARSE HAIR AND MENTAL RETARDATION
NCBRS
NBS
Nicolaides-Baraitser syndrome
Number of Symptoms 77
OrphanetNr: 3051
OMIM Id: 601358
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
4
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
5
 (HPO:0000294) Low anterior hairline 52 / 7739
6
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
7
 (HPO:0000418) Narrow nasal ridge 15 / 7739
8
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
9
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
10
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
11
 (HPO:0000446) Narrow nasal bridge Frequent [Orphanet] 12 of 22 [HPO:skoehler] 29 / 7739
12
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
13
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
14
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
15
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
16
 (HPO:0002209) Sparse scalp hair 59 / 7739
17
 (HPO:0000289) Broad philtrum 11 / 7739
18
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
19
 (HPO:0000687) Widely spaced teeth 11 of 21 [HPO:skoehler] 40 / 7739
20
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 6 of 22 [HPO:skoehler] 328 / 7739
21
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
22
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
23
 (HPO:0007946) Unilateral narrow palpebral fissure 9 of 22 [HPO:skoehler] 3 / 7739
24
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
25
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
26
 (HPO:0010864) Intellectual disability, severe 120 / 7739
27
 (HPO:0001344) Absent speech 57 / 7739
28
 (HPO:0000718) Aggressive behavior 109 / 7739
29
 (HPO:0002465) Poor speech 31 / 7739
30
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
31
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
32
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
33
 (HPO:0006237) Prominent interphalangeal joints 2 / 7739
34
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
35
 (HPO:0009803) Short phalanx of finger 79 / 7739
36
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
37
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
38
 (HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
39
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
40
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
41
 (HPO:0010049) Short metacarpal 99 / 7739
42
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
43
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
44
 (HPO:0100759) Clubbing of fingers Frequent [Orphanet] 40 / 7739
45
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
46
 (HPO:0002650) Scoliosis Frequent [Orphanet] 9 of 22 [HPO:skoehler] 705 / 7739
47
 (HPO:0010743) Short metatarsal 56 / 7739
48
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
49
 (HPO:0004325) Decreased body weight 492 / 7739
50
 (HPO:0001510) Growth delay 295 / 7739
51
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
52
 (HPO:0004322) Short stature Frequent [Orphanet] 13 of 23 [HPO:skoehler] 1232 / 7739
53
 (HPO:0001508) Failure to thrive 454 / 7739
54
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
55
 (HPO:0000964) Eczema Frequent [Orphanet] 8 of 23 [HPO:skoehler] 81 / 7739
56
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
57
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
58
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
59
 (HPO:0008070) Sparse hair 94 / 7739
60
 (HPO:0001047) Atopic dermatitis 20 / 7739
61
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
62
 (OMIM) Microcephaly, variable 1 / 7739
63
 (OMIM) Dense or normal eyelashes 1 / 7739
64
 (OMIM) Prominent distal phalanges 1 / 7739
65
 (OMIM) Wrinkly skin 2 / 7739
66
 (OMIM) Thick alae nasi 2 / 7739
67
 (OMIM) Loss of eyebrows 2 / 7739
68
 (OMIM) Thin upper vermilion 3 / 7739
69
 (OMIM) Broad nasal base 2 / 7739
70
 (OMIM) Seizures, early onset 3 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
72
 (OMIM) Lack of speech 17 / 7739
73
 (OMIM) Tantrums 1 / 7739
74
 (HPO:0012810) Wide nasal base 3 / 7739
75
 (OMIM) Pale, sensitive skin 1 / 7739
76
 (OMIM) Sagging periorbital skin 1 / 7739
77
 (OMIM) Thick lower vermilion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009).
Clinical Description OMIM Nicolaides and Baraitser (1993) described a 16-year-old female with mental retardation, sparse hair over the scalp with normal eyebrows and eyelashes, prominent lower lip, brachydactyly, and swelling of the interphalangeal joints. Sousa et al. (2009) reported follow-up of ...
Molecular genetics OMIM Van Houdt et al. (2012) sequenced the exomes of 10 individuals with Nicolaides-Baraitser syndrome and identified heterozygous variants in SMARCA2 in 8 of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NCBRS; ...