Disease #04153 (FLPIS;SDTY1 (Filippi syndrome (FLPIS, syndactyly with microcephaly and mental retardation)), OMIM:272440)

Official abbreviation FLPIS;SDTY1
Name Filippi syndrome (FLPIS, syndactyly with microcephaly and mental retardation)
OMIM ID 272440
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene CKAP2L
Associated tissues -
Disease features -
Remarks -
Date created 2014-11-21 11:36:09 +01:00 (CET)
Date last edited 2021-12-16 15:10:46 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00024923 FP1-1 PubMed: Hussain 2014, Journal: Hussain 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Italy Sardinian - - - - FLPIS;SDTY1 prenatal intrauterine growth restriction; Gestational age at birth:34 weeks; Length at birth (SD): -2.0; Weight at birth (SD): -2.0; occipital-frontal circumference at birth (SD): -3.5; Height at examination (SD): -5.5; Weight at examination (SD): -5.5; OFC at examination (SD): -10.0; Severe intellectual disability; Severe speech impairment; Epileptic seizures; Broad nasal bridge/telecanthus; Prominent nasal root/ bridge; Underdeveloped alae nasi; Syndactyly of fingers: bilateral 3 and 4 (cutaneous); Syndactyly of toes: bilateral 2-4 (cutaneous); Hypoplasia of aplasia fifth toes; Clinodactyly of fifth fingers; Small teeth; Cryptorchidism CKAP2L CKAP2L 1 2 Marianne Vos (LOVD-team)
00024924 FP1-3 PubMed: Hussain 2014, Journal: Hussain 2014 brother of FP1-1 M no Italy Sardinian - - - - FLPIS;SDTY1 prenatal IUGR; Gestational age at birth: 38w; Weight at birth (SD): -2.0; Height at examination (SD): -1.4; Weight at examination (SD): -2.0; OFC at examination (SD): -4.0; Mild Speech impairment; Broad nasal bridge/ telecanthus; Prominent nasal root/ bridge; Underdeveloped alae nasi; Bilateral Syndactyly 3 and 4 (cutaneous) fingers; Bilateral Syndactyly 2-4 (cutaneous) toes; Hypoplasia of fifth toes; double parietal hair whorl; small teeth; cryptorchidism CKAP2L CKAP2L 1 1 Marianne Vos (LOVD-team)
00024925 - Journal: Hussain 014 - F no Italy - - - - - FLPIS;SDTY1 length at birth (SD): -2.0; Weight at birth (SD): -0.7; OFC at birth (SD): -1.8; Height at examination (SD): -3.3; Weight at examination (SD): -1.6; OFC at examination (SD): -2.0; Moderate Intellectual disability; Moderate Speech impairment; Epileptic Seizures; Broad nasal bridge/telecanthus; Syndactyly of fingers: bilateral 3-5 (cutaneous), bilateral 3 and 4 (osseous; distal phalanges); Syndactyly of toes: bilateral 2 and 3 (cutaneous); Hypoplasias of fingers and toes (mainly middle and distal phalanges); Clinodactyly of fifth fingers; Thin hair; Hypodontia; no small teeth, abnormal crowns and color CKAP2L - - 1 Marianne Vos (LOVD-team)
00024926 - Journal: Hussain 2014 - M no Poland Polish - - - - FLPIS;SDTY1 gestational age at birth: 37w; Length at birth (SD):+0.9; Weight at birth (SD): 0.5; OFC at birth (SD): 2.3; Height at examination (SD): 0.5; Weight at examination (SD): 1.9; OFC at examination (SD): 2.8; Severe Intellectual disability; Severe Speech impairment; Broad nasal bridge/telecanthus; Prominent nasal root/bridge; Underdeveloped alae nasi; sinistral syndactyly of fingers 3 and 4 (cutaneous); bilateral syndactyly of toes 4 and 5 (cutaneous), sinistral syndactyly of toes 1 and 2 (cutaneous); aplasias: sinistral second finger (middle and distal phalanges), sinistral third toe (total); hypoplasias: dextral toes (multiple phalanges); Thin hair; Small Teeth; cryptorchidism CKAP2L - - 1 Marianne Vos (LOVD-team)
00024927 - Journal: Hussain 2014 - M no United Kingdom (Great Britain) European - - - - FLPIS;SDTY1 gestational age at birth: 39w; Weight at birth (SD): +1.8w; Height at examination (SD): <2.0; Weight at examination (SD): <2.0; OFC at examination (SD): 3.8; Mild to moderate Intellectual disability; Moderate Speech impairment; Broad nasal bridge/ telecanthus; Prominent nasal root/bridge; bilateral syndactyly fingers 3 and 4 (cutaneous); bilateral syndactyly toes 2 and 3 (cutaneous); coarse, different colors, abnormal growth pattern CKAP2L - - 1 Marianne Vos (LOVD-team)
00399379 proband PubMed: Karakaya 2020, Journal: Karakaya 2020 - F yes Syria Syrian - - - - FLPIS;SDTY1 intrauterine growth retardation (HP:0001511), postnatal growth retardation (HP:0008897), short stature (HP:0004322), microcephaly (HP:0000252), no craniosynostosis (-HP:0001363), prominent forehead (HP:0011220), wide nasal bridge (HP:0000431), bulbous nose (HP:0000414), prominent nasal bridge (HP:0000426), underdeveloped nasal alae (HP:0000430), 3-4 finger cutaneous syndactyly (HP:0011939), 2-4 toe syndactyly (HP:0010714), broad hallux (HP:0010055), talipes equinovarus (HP:0001762), no abnormality of the genital system (-HP:0000078), no delayed skeletal maturation (-HP:0002750), no osseous syndactyly of toes (-HP:0010717), no osseous finger syndactyly (-HP:0010492), no hearing abnormality (-HP:0000364), no abnormality of the eye (-HP:0000478), secundum atrial septal defect (HP:0001684) - CKAP2L 1 1 Hasan Bas
00399469 case PubMed: Sabir 2019, Journal: Sabir 2019 - F yes United Kingdom (Great Britain) Pakistani - - - - FLPIS;SDTY1 precocious puberty (HP:0000826), oligohydramnios (HP:0001562), decreased fetal movement (HP:0001558), growth delay (HP:0001510), no delayed gross motor development (-HP:0002194), drooling (HP:0002307), impaired mastication (HP:0005216), feeding difficulties (HP:0011968 ), gait disturbance (HP:0001288), autistic behavior (HP:0000729), facial asymmetry (HP:0000324), sparse scalp hair (HP:0002209), high anterior hairline (HP:0009890), highly arched eyebrow (HP:0002553), thick eyebrow (HP:0000574), long face (HP:0000276), narrow face (HP:0000275), bilateral ptosis (HP:0001488), wide nasal bridge (HP:0000431), underdeveloped nasal alae (HP:0000430), hypertrichosis (HP:0000998), thin upper lip vermilion (HP:0000219), widely spaced teeth (HP:0000687), micrognathia (HP:0000347), microcephaly (HP:0000252), 3-4 finger syndactyly (HP:0006097), 2-4 toe syndactyly (HP:0010714), osseous syndactyly of toes (HP:0010717), enlarged labia minora (HP:0008683), abnormal lateral ventricle morphology (HP:0030047) - CKAP2L 1 1 Hasan Bas
00399519 Case PubMed: Capecchi 2018, Journal: Capecchi 2018 - M - Italy Sardinian - - - - FLPIS;SDTY1 microcephaly (HP:0000252), growth delay (HP:0001510), abnormal facial shape (HP:0001999), short stature (HP:0004322), postnatal growth retardation (HP:0008897), plagiocephaly (HP:0001357), fine hair (HP:0002213), high anterior hairline (HP:0009890), highly arched eyebrow (HP:0002553), long eyelashes (HP:0000527), macrotia (HP:0000400), abnormality of the helix (HP:0011039), wide nasal bridge (HP:0000431), bulbous nose (HP:0000414), underdeveloped nasal alae (HP:0000430), long philtrum (HP:0000343), thin vermilion border (HP:0000233), widely spaced teeth (HP:0000687), pointed chin (HP:0000307), clinodactyly of the 5th finger (HP:0004209), single transverse palmar crease (HP:0000954), 2-4 toe syndactyly (HP:0010714), dystrophic toenail (HP:0001810), unilateral cryptorchidism (HP:0012741), no abnormality of brain morphology (-HP:0012443), delayed skeletal maturation (HP:0002750), decreased response to growth hormone stimulation test (HP:0000824), CKAP2L CKAP2L 1 1 Hasan Bas
00399567 case PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - FLPIS;SDTY1 microcephaly (HP:0000252), abnormal facial shape (HP:0001999), prominent forehead (HP:0011220), micrognathia (HP:0000347), thin vermilion border (HP:0000233), broad eyebrow (HP:0011229), long eyelashes (HP:0000527), neurodevelopmental delay (HP:0012758), abnormal incisor morphology (HP:0011063), 2-3 toe syndactyly (HP:0004691), seizure (HP:0001250), short stature (HP:0004322), cryptorchidism (HP:0000028), - CKAP2L 2 1 Hasan Bas
00401666 Case two PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - FLPIS;SDTY1 intellectual disability (HP:0001249), abnormal facial shape (HP:0001999), microcephaly (HP:0000252), decreased testicular size (HP:0008734), 2-3 toe syndactyly (HP:0004691), cryptorchidism (HP:0000028), EEG abnormality (HP:0002353), inguinal hernia (HP:0000023), - CKAP2L 2 1 Hasan Bas
00409125 case PubMed: Yang 2022, Journal: Yang 2022 - M no Canada English >17y - - - FLPIS;SDTY1 microcephaly (HP:0000252), growth delay (HP:0001510), short stature (HP:0004322), delayed skeletal maturation (HP:0002750), 3-4 finger cutaneous syndactyly (HP:0011939), clinodactyly of the 5th finger (HP:0004209), 2-4 toe cutaneous syndactyly (HP:0005768), bilateral cryptorchidism (HP:0008689), myopia (HP:0000545), amblyopia (HP:0000646), delayed eruption of permanent teeth (HP:0000696), oligodontia (HP:0000677), hypodontia (HP:0000668), small, conical teeth (HP:0200141), increased circulating IgE level (HP:0003212), immunologic hypersensitivity (HP:0100326), no abnormal facial shape (-HP:0001999), no delayed gross motor development (-HP:0002194), no delayed fine motor development (-HP:0010862), no intellectual disability (-HP:0001249), - CKAP2L 1 1 Hasan Bas
00409130 FP5-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M yes Pakistan pakistani >16y - - - FLPIS;SDTY1 primary microcephaly (HP:0011451), premature birth (HP:0001622), intrauterine growth retardation (HP:0001511), short stature (HP:0004322), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), seizure (HP:0001250), prominent nasal bridge (HP:0000426), underdeveloped nasal alae (HP:0000430), 3-4 finger syndactyly (HP:0006097), 2-5 toe syndactyly (HP:0010715), 2-4 toe syndactyly (HP:0010714), Short 5th toe (HP:0011917), clinodactyly of the 5th finger (HP:0004209), hypertrichosis (HP:0000998), Abnormal hair pattern (HP:0010720), hypodontia (HP:0000668), abnormality of dental morphology (HP:0006482), ambiguous genitalia (HP:0000062), microphallus (HP:0030260), hypospadias (HP:0000047), abnormality of the scrotum (HP:0000045), no failure to thrive (-HP:0001508), no telecanthus (-HP:0000506) - CKAP2L 1 1 Hasan Bas
00409131 FP7-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M yes Turkey Turkish >01y11m - - - FLPIS;SDTY1 primary microcephaly (HP:0011451), no premature birth (-HP:0001622), intrauterine growth retardation (HP:0001511), short stature (HP:0004322), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), no seizure (-HP:0001250), no prominent nasal bridge (-HP:0000426), underdeveloped nasal alae (HP:0000430), no 3-4 finger syndactyly (-HP:0006097), 2-3 toe syndactyly (HP:0004691), no short digit (-HP:0011927), clinodactyly of the 5th finger (HP:0004209), Sparse hair (HP:0008070), Abnormal hair pattern (HP:0010720), no hypodontia (-HP:0000668), no abnormality of dental morphology (-HP:0006482), cryptorchidism (HP:0000028), failure to thrive (HP:0001508), telecanthus (HP:0000506), delayed speech and language development (HP:0000750), - CKAP2L 1 1 Hasan Bas
00409137 FP8-1 PubMed: Hussain 2014, Journal: Hussain 2014 - F yes United Kingdom (Great Britain) Asian >10y06m - - - FLPIS;SDTY1 premature birth (HP:0001622), intrauterine growth retardation (HP:0001511), small for gestational age (HP:0001518), short stature (HP:0004322), failure to thrive (HP:0001508), primary microcephaly (HP:0011451), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), no seizure (-HP:0001250), prominent nasal bridge (HP:0000426), underdeveloped nasal alae (HP:0000430), 3-4 finger syndactyly (HP:0006097), 2-4 toe syndactyly (HP:0010714), no short digit (-HP:0011927), no clinodactyly (-HP:0030084), no abnormal hair morphology (-HP:0001595), no hypodontia (-HP:0000668), abnormal incisor morphology (HP:0011063), abnormality of dental morphology (HP:0006482), no telecanthus (-HP:0000506), recurrent respiratory infections (HP:0002205), recurrent ear infections (HP:0410018), no hearing abnormality (-HP:0000364), no abnormality of vision (-HP:0000504) - CKAP2L 1 1 Hasan Bas
00409138 FP9-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M no United Kingdom (Great Britain) English >02y10m - - - FLPIS;SDTY1 no premature birth (-HP:0001622), intrauterine growth retardation (HP:0001511), small for gestational age (HP:0001518), short stature (HP:0004322), microcephaly (HP:0000252), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), no seizure (-HP:0001250), no prominent nasal bridge (-HP:0000426), underdeveloped nasal alae (HP:0000430), 3-4 finger syndactyly (HP:0006097), 2-4 toe syndactyly (HP:0010714), no short digit (-HP:0011927), no clinodactyly (-HP:0030084), cryptorchidism (HP:0000028), telecanthus (HP:0000506) - CKAP2L 2 1 Hasan Bas
00409195 - - - F yes Turkey Turkish - - - - FLPIS;SDTY1 short stature (HP:0004322), microcephaly (HP:0000252), decreased body weight (HP:0004325), intellectual disability (HP:0001249), no seizure (-HP:0001250), prominent nasal bridge (HP:0000426), underdeveloped nasal alae (HP:0000430), low hanging columella (HP:0009765), 3-4 finger syndactyly (HP:0006097), 2-4 finger syndactyly (HP:0010709), 2-4 toe syndactyly (HP:0010714), 2-4 toe syndactyly (HP:0010714), short 5th finger (HP:0009237), short 5th toe (HP:0011917), no clinodactyly (-HP:0030084), no telecanthus (-HP:0000506), hypotelorism (HP:0000601), no broad forehead (-HP:0000337), frontal hirsutism (HP:0011335), short philtrum (HP:0000322), thin upper lip vermilion (HP:0000219), microdontia (HP:0000691), abnormal incisor morphology (HP:0011063), irregular menstruation (HP:0000858), no hypertrichosis (-HP:0000998), violent behavior (HP:0008760), aggressive behavior (HP:0000718), sleep disturbance (HP:0002360), abnormal social behavior (HP:0012433), talipes (HP:0001883), retrognathia (HP:0000278), hypermelanotic macule (HP:0001034) CKAP2L CKAP2L 1 1 Hasan Bas
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