Femoral-facial syndrome

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.



Input patient's signs and symptoms


Narrow down the case reports



Total: 33 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(71.7%)		 1669627
 [The femoral hypoplasia syndrome and unusual facies in an infant of a diabetic mother].
Dumic M, Vukovic J, Radica A, Granic M, Car N, Anticevic D.
Lijec Vjesn. 1991;113(9-10):324-6.
Long philtrum Micrognathia Radioulnar synostosis
Adult Diabetes Mellitus, Insulin-Dependent Face Females Femur Homo sapiens Infant Pregnancy Pregnancy in Diabetics
2
(70.8%)		 6854450
 Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.
Johnson JP, Carey JC, Gooch WM 3rd, Petersen J, Beattie JF.
J Pediatr. 1983;102(6):866-72.
Long philtrum Micrognathia Upslanted palpebral fissure
Child Diabetes Mellitus Face Females Femur Homo sapiens Infant Infant, Newborn Male Syndrome
3
(66.3%)		 26455697
 [Femoral hypoplasia-unusual facies syndrome: A case report].
Garcia V D, Aragon V CR, Trevino A MG, Rivera S G.
Rev Chil Pediatr. 2016;87(1):59-62.
Long philtrum Micrognathia
Females Femur Homo sapiens Infant, Newborn Pierre Robin Syndrome Pregnancy Pregnancy Complications
3
(66.3%)		 22303796
 Femoral hypoplasia-unusual facies syndrome in a black African infant.
Alao MJ, Gbenou S, Yekpe P, Laleye A.
Genet Couns. 2011;22(4):365-70.
Long philtrum Micrognathia
Females Femur Homo sapiens Infant, Newborn Infant, Premature, Diseases Phenotype Pierre Robin Syndrome
3
(66.3%)		 15127766
 Femoral-facial syndrome with hemifacial microsomia and hypoglossia.
Duzcan F, Ergin H, Percin EF, Tepeli E, Erkula G.
Clin Dysmorphol. 2004;13(1):43-4.
Long philtrum Micrognathia
Ectromelia Face Femur Homo sapiens Infant, Newborn Male Syndrome
3
(66.3%)		 2624385
 [Femoral hypoplasia--unusual facies syndrome].
Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi HA, Bennaceur B.
Ann Pediatr (Paris). 1989;36(10):693-6.
Long philtrum Micrognathia
Child, Preschool Face Females Femur Homo sapiens Male Syndrome
7
(65.3%)		 24254654
 Prenatal diagnosis of femoral-facial syndrome: report of two cases.
Silvas E, Rypens F, Jovanovic M, Delezoide AL, Patey N.
Birth Defects Res A Clin Mol Teratol. 2013;97(12):770-3.
Micrognathia Short femur
Face Females Femur Fetal Diseases Fetus Homo sapiens Male Pierre Robin Syndrome Pregnancy Ultrasonography, Prenatal
7
(65.3%)		 19488946
 Prenatal diagnosis and tridimensional ultrasound features of bilateral femoral hypoplasia--unusual facies syndrome.
Figueroa C, Plasencia W, Eguiluz I, De Luis M, Barber MA, Valle L, Garcia-Hernandez JA.
J Matern Fetal Neonatal Med. 2009;22(10):936-9.
Micrognathia Short femur
Adult Facies Females Femur Homo sapiens Male Pregnancy Syndrome Ultrasonography, Prenatal
9
(64.7%)		 16919561
 Femoral facial syndrome with bilateral agenesis of femora and preaxial polydactyly of the feet in a Chinese stillborn.
Poon WL, Yuen MK, Ng SK, Leung YM.
Clin Imaging. 2006;30(5):357-60.
Micrognathia Short nose Cleft lip
Face Females Femur Fetus Homo sapiens Polydactyly Pregnancy Stillbirth Syndrome Toes
10
(60.5%)		 12884431
 Splenogonadal fusion-limb defect "syndrome" and associated malformations.
McPherson F, Frias JL, Spicer D, Opitz JM, Gilbert-Barness EF.
Am J Med Genet A. 2003;120A(4):518-22.
Microglossia Micrognathia
Craniofacial Abnormalities Females Fetus Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Spleen Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0003097 Short femur Very frequent (99-80%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0001841 Preaxial foot polydactyly Frequent (79-30%)
HP:0002644 Abnormality of pelvic girdle bone morphology Frequent (79-30%)
HP:0002812 Coxa vara Frequent (79-30%)
HP:0002991 Abnormality of fibula morphology Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005107 Abnormal sacrum morphology Frequent (79-30%)
HP:0005772 Aplasia/Hypoplasia of the tibia Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0009800 Maternal diabetes Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000040 Long penis Occasional (29-5%)
HP:0000113 Polycystic kidney dysplasia Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000902 Rib fusion Occasional (29-5%)
HP:0000912 Sprengel anomaly Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002974 Radioulnar synostosis Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000347 Micrognathia 3
HP:0000308 Microretrognathia 2
HP:0009800 Maternal diabetes 2
HP:0100258 Preaxial polydactyly 2
HP:0000343 Long philtrum 1
HP:0000819 Diabetes mellitus 1
HP:0003196 Short nose 1
HP:0009556 Absent tibia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID