MCID: FLP001
MIFTS: 30

Filippi Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Filippi Syndrome

MalaCards integrated aliases for Filippi Syndrome:

Name: Filippi Syndrome 57 53 75 37 29 6 73
Syndactyly, Type I, with Microcephaly and Mental Retardation 57 75
Scott Craniodigital Syndrome with Mental Retardation 57 75
Flpis 57 75
Unusual Facial Appearance, Microcephaly, Growth and Mental Retardation and Syndactyly 53
Syndactyly, Type I, with Microcephaly and Intellectual Disability 40
Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome 53
Syndactyly Type I with Microcephaly and Mental Retardation 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
filippi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Filippi Syndrome

NIH Rare Diseases : 53 Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known. 

MalaCards based summary : Filippi Syndrome, also known as syndactyly, type i, with microcephaly and mental retardation, is related to scott bryant graham syndrome and microcephaly, and has symptoms including dystonia and seizures. An important gene associated with Filippi Syndrome is CKAP2L (Cytoskeleton Associated Protein 2 Like). Affiliated tissues include tongue, and related phenotypes are frontal bossing and finger syndactyly

OMIM : 57 Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014). (272440)

UniProtKB/Swiss-Prot : 75 Filippi syndrome: A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities.

Related Diseases for Filippi Syndrome

Diseases related to Filippi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 scott bryant graham syndrome 11.3
2 microcephaly 9.9

Symptoms & Phenotypes for Filippi Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
cerebellar atrophy
mental retardation
dystonic movements
dystonic tongue protrusion
more
Skeletal Skull:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism
ambiguous genitalia (rare)

Head And Neck Face:
broad forehead
short philtrum
hairy forehead

Head And Neck Nose:
broad nasal bridge
hypoplastic alae nasi
prominent columella

Growth Weight:
low weight

Skeletal Hands:
fifth-finger clinodactyly
bilateral cutaneous syndactyly of third and fourth fingers

Skeletal Feet:
bilateral cutaneous syndactyly of second, third, and fourth toes
hypoplasia of fifth toes (in some patients)

Head And Neck Head:
microcephaly

Head And Neck Eyes:
optic atrophy
proptosis
poor vision
retrobulbar venous varix

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Cardiovascular Heart:
ventricular septal defect

Head And Neck Teeth:
small teeth
abnormally shaped teeth
hypodontia (rare)
serrated incisors (rare)

Head And Neck Mouth:
thin lips
straight mouth

Cardiovascular Vascular:
retrobulbar venous varix

Skin Nails Hair Hair:
abnormal hair growth pattern
sparse hair (rare)
hypertrichosis (rare)


Clinical features from OMIM:

272440

Human phenotypes related to Filippi Syndrome:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 frequent (33%) HP:0002007
2 finger syndactyly 32 occasional (7.5%) HP:0006101
3 intellectual disability 32 hallmark (90%) HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 muscular hypotonia 32 frequent (33%) HP:0001252
6 spasticity 32 frequent (33%) HP:0001257
7 dysphasia 32 hallmark (90%) HP:0002357
8 global developmental delay 32 hallmark (90%) HP:0001263
9 delayed skeletal maturation 32 frequent (33%) HP:0002750
10 wide nasal bridge 32 hallmark (90%) HP:0000431
11 microcephaly 32 hallmark (90%) HP:0000252
12 visual impairment 32 HP:0000505
13 optic atrophy 32 frequent (33%) HP:0000648
14 prominent forehead 32 frequent (33%) HP:0011220
15 limitation of joint mobility 32 frequent (33%) HP:0001376
16 microdontia 32 HP:0000691
17 cryptorchidism 32 hallmark (90%) HP:0000028
18 intrauterine growth retardation 32 frequent (33%) HP:0001511
19 postnatal growth retardation 32 HP:0008897
20 specific learning disability 32 hallmark (90%) HP:0001328
21 dystonia 32 HP:0001332
22 aphasia 32 hallmark (90%) HP:0002381
23 prominent nasal bridge 32 hallmark (90%) HP:0000426
24 underdeveloped nasal alae 32 hallmark (90%) HP:0000430
25 broad forehead 32 frequent (33%) HP:0000337
26 short philtrum 32 frequent (33%) HP:0000322
27 clinodactyly of the 5th finger 32 hallmark (90%) HP:0004209
28 small nail 32 frequent (33%) HP:0001792
29 downslanted palpebral fissures 32 frequent (33%) HP:0000494
30 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
31 ventricular septal defect 32 occasional (7.5%) HP:0001629
32 severe short stature 32 hallmark (90%) HP:0003510
33 hypodontia 32 occasional (7.5%) HP:0000668
34 proptosis 32 HP:0000520
35 thin vermilion border 32 occasional (7.5%) HP:0000233
36 ambiguous genitalia 32 occasional (7.5%) HP:0000062
37 decreased body weight 32 HP:0004325
38 cerebellar atrophy 32 HP:0001272
39 wide nose 32 hallmark (90%) HP:0000445
40 sparse hair 32 occasional (7.5%) HP:0008070
41 supernumerary nipple 32 occasional (7.5%) HP:0002558
42 single transverse palmar crease 32 HP:0000954
43 aplastic/hypoplastic toenail 32 frequent (33%) HP:0010624
44 broad columella 32 frequent (33%) HP:0010761
45 echolalia 32 hallmark (90%) HP:0010529
46 paraplegia 32 frequent (33%) HP:0010550
47 mutism 32 hallmark (90%) HP:0002300
48 hypertrichosis 32 occasional (7.5%) HP:0000998
49 clinodactyly of the 5th toe 32 frequent (33%) HP:0001864
50 2-4 toe syndactyly 32 HP:0010714

UMLS symptoms related to Filippi Syndrome:


dystonia, seizures

Drugs & Therapeutics for Filippi Syndrome

Search Clinical Trials , NIH Clinical Center for Filippi Syndrome

Genetic Tests for Filippi Syndrome

Genetic tests related to Filippi Syndrome:

# Genetic test Affiliating Genes
1 Filippi Syndrome 29 CKAP2L

Anatomical Context for Filippi Syndrome

MalaCards organs/tissues related to Filippi Syndrome:

41
Tongue

Publications for Filippi Syndrome

Articles related to Filippi Syndrome:

(show all 16)
# Title Authors Year
1
CKAP2L mutation confirms the diagnosis of Filippi syndrome. ( 29473684 )
2018
2
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. ( 26956253 )
2016
3
Filippi Syndrome: Report of a Rare Case. ( 26813917 )
2015
4
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. ( 25439729 )
2014
5
A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature. ( 23863342 )
2013
6
Multiple dental and skeletal abnormalities in an individual with filippi syndrome. ( 24222867 )
2013
7
Filippi syndrome: further clinical characterization. ( 18553552 )
2008
8
Filippi syndrome: two cases with ectodermal features, expanding the phenotype. ( 15365457 )
2004
9
Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. ( 12416644 )
2002
10
Filippi syndrome: report of three additional cases. ( 10533026 )
1999
11
Expanding the phenotype of Filippi syndrome: a report of three cases. ( 10532170 )
1999
12
An additional case of craniodigital syndrome: variable expression of the Filippi syndrome? ( 9377808 )
1997
13
Filippi syndrome with mild learning difficulties. ( 8867657 )
1996
14
Filippi syndrome: a new case with skeletal abnormalities. ( 7473664 )
1995
15
Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. ( 7717418 )
1995
16
Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family. ( 8395190 )
1993

Variations for Filippi Syndrome

ClinVar genetic disease variations for Filippi Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CKAP2L NM_152515.4(CKAP2L): c.571dupA (p.Ile191Asnfs) duplication Pathogenic rs727502802 GRCh37 Chromosome 2, 113514377: 113514377
2 CKAP2L NM_152515.4(CKAP2L): c.571dupA (p.Ile191Asnfs) duplication Pathogenic rs727502802 GRCh38 Chromosome 2, 112756800: 112756800
3 CKAP2L NM_152515.4(CKAP2L): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs548949031 GRCh37 Chromosome 2, 113522174: 113522174
4 CKAP2L NM_152515.4(CKAP2L): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs548949031 GRCh38 Chromosome 2, 112764597: 112764597
5 CKAP2L NM_152515.4(CKAP2L): c.78_79insTT (p.Gly27Leufs) insertion Pathogenic rs727502803 GRCh37 Chromosome 2, 113520105: 113520106
6 CKAP2L NM_152515.4(CKAP2L): c.78_79insTT (p.Gly27Leufs) insertion Pathogenic rs727502803 GRCh38 Chromosome 2, 112762528: 112762529
7 CKAP2L NM_152515.4(CKAP2L): c.751delA (p.Ser251Alafs) deletion Pathogenic rs727502804 GRCh37 Chromosome 2, 113514197: 113514197
8 CKAP2L NM_152515.4(CKAP2L): c.751delA (p.Ser251Alafs) deletion Pathogenic rs727502804 GRCh38 Chromosome 2, 112756620: 112756620
9 CKAP2L NM_152515.4(CKAP2L): c.157_485del329 (p.Thr53Tyrfs) deletion Pathogenic GRCh38 Chromosome 2, 112756886: 112757214
10 CKAP2L NM_152515.4(CKAP2L): c.157_485del329 (p.Thr53Tyrfs) deletion Pathogenic GRCh37 Chromosome 2, 113514463: 113514791
11 CKAP2L NM_152515.4(CKAP2L): c.554_555delAA (p.Lys185Argfs) deletion Pathogenic rs727502805 GRCh37 Chromosome 2, 113514393: 113514394
12 CKAP2L NM_152515.4(CKAP2L): c.554_555delAA (p.Lys185Argfs) deletion Pathogenic rs727502805 GRCh38 Chromosome 2, 112756816: 112756817

Expression for Filippi Syndrome

Search GEO for disease gene expression data for Filippi Syndrome.

Pathways for Filippi Syndrome

GO Terms for Filippi Syndrome

Sources for Filippi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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