Neurofaciodigitorenal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NFDR SYNDROME
Freire Maia-Pinheiro-Opitz syndrome
Number of Symptoms 41
OrphanetNr: 2673
OMIM Id: 256690
ICD-10: Q87.8
UMLs: C0796088
MeSH: C537388
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: 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
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
4
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0011803) Bifid nose 12 / 7739
7
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
8
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
9
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
10
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
11
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
12
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
13
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
14
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
16
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
17
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
18
 (HPO:0001131) Corneal dystrophy Frequent [Orphanet] 56 / 7739
19
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
20
 (HPO:0009912) Abnormality of the tragus Very frequent [Orphanet] 12 / 7739
21
 (HPO:0009896) Abnormality of the antitragus Very frequent [Orphanet] 10 / 7739
22
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
23
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
24
 (HPO:0002353) EEG abnormality 188 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0100759) Clubbing of fingers Frequent [Orphanet] 40 / 7739
27
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
28
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
29
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
30
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
33
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
34
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
35
 (OMIM) Highly abnormal EEG 1 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
37
 (OMIM) HEENT Vertical groove in tip of nose 1 / 7739
38
 (OMIM) Abnormal ear shape 1 / 7739
39
 (OMIM) No seizures 5 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: