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Femoral hypoplasia - unusual facies syndrome(FFS)

MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Synonyms: Femoral dysgenesis, bilateral; Femoral facial syndrome; FFS
SNOMED CT: Femoral hypoplasia - unusual facies syndrome (13280000); Femoral facial syndrome (13280000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007604
OMIM®: 134780
Orphanet: ORPHA1988

Definition

Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010). [from OMIM]

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Truncus arteriosus
MedGen UID:
22501
Concept ID:
C0041206
Embryonic Structure
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Gestational diabetes
MedGen UID:
38815
Concept ID:
C0085207
Disease or Syndrome
Gestational diabetes is a disorder characterized by abnormally high levels of blood glucose (also called blood sugar) during pregnancy. Affected women do not have diabetes before they are pregnant, and most of these women go back to being nondiabetic soon after the baby is born. The disease has a 30 to 70 percent chance of recurring in subsequent pregnancies. Additionally, about half of women with gestational diabetes develop another form of diabetes, known as type 2 diabetes, within a few years after their pregnancy.\n\nGestational diabetes is often discovered during the second trimester of pregnancy. Most affected women have no symptoms, and the disease is discovered through routine screening at their obstetrician's office. If untreated, gestational diabetes increases the risk of pregnancy-associated high blood pressure (called preeclampsia) and early (premature) delivery of the baby.\n\nBabies of mothers with gestational diabetes tend to be large (macrosomia), which can cause complications during birth. Infants whose mothers have gestational diabetes are also more likely to develop dangerously low blood glucose levels soon after birth. Later in life, these individuals have an increased risk of developing obesity, heart disease, and type 2 diabetes.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Radioulnar synostosis
MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Absent vertebra
MedGen UID:
57862
Concept ID:
C0158776
Congenital Abnormality
A developmental defect characterized by agenesis of one or more vertebral bodies.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Bilobed right lung
MedGen UID:
539498
Concept ID:
C0265792
Congenital Abnormality
A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.
Short femur
MedGen UID:
87499
Concept ID:
C0345375
Congenital Abnormality
An abnormal shortening of the femur.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Missing ribs
MedGen UID:
98093
Concept ID:
C0426816
Finding
A developmental anomaly with absence of one or more ribs.
Dysplastic sacrum
MedGen UID:
608984
Concept ID:
C0431414
Congenital Abnormality
A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Hypoplastic labia majora
MedGen UID:
107566
Concept ID:
C0566899
Finding
Undergrowth of the outer labia.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Hypoplastic acetabulae
MedGen UID:
375890
Concept ID:
C1846442
Finding
Underdeveloped acetabulae.
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Finding
Short fourth metatarsal bone.
Limited elbow movement
MedGen UID:
337930
Concept ID:
C1849955
Finding
Abnormal renal collecting system morphology
MedGen UID:
342720
Concept ID:
C1851303
Anatomical Abnormality
An abnormality of the renal collecting system.
Aplasia/hypoplasia of the femur
MedGen UID:
376994
Concept ID:
C1851310
Finding
Absence or underdevelopment of the femur.
Limited shoulder movement
MedGen UID:
341979
Concept ID:
C1851313
Finding
A limitation of the range of movement of the shoulder joint.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Humeroradial synostosis
MedGen UID:
418931
Concept ID:
C2930865
Disease or Syndrome
An abnormal osseous union (fusion) between the radius and the humerus.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Short fifth metatarsal
MedGen UID:
867287
Concept ID:
C4021649
Anatomical Abnormality
Short (hypoplastic) fifth metatarsal bone.
Short third metatarsal
MedGen UID:
867288
Concept ID:
C4021650
Anatomical Abnormality
Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Encephalocele
MedGen UID:
1646412
Concept ID:
C4551722
Congenital Abnormality
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFemoral hypoplasia - unusual facies syndrome
Follow this link to review classifications for Femoral hypoplasia - unusual facies syndrome in Orphanet.

Professional guidelines

PubMed

Robinow M, Sonek J, Buttino L, Veghte A
Am J Med Genet 1995 Jul 3;57(3):397-9. doi: 10.1002/ajmg.1320570306. PMID: 7677141

Recent clinical studies

Etiology

Tonni G, Palmisano M, Lituania M, Grisolia G, Baffico AM, Bonasoni MP, Pattacini P, De Felice C, Araujo Júnior E
Taiwan J Obstet Gynecol 2016 Dec;55(6):771-776. doi: 10.1016/j.tjog.2015.10.027. PMID: 28040117
Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. doi: 10.1016/s0899-7071(02)00496-5. PMID: 12504316

Diagnosis

Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G
Am J Med Genet A 2017 Nov;173(11):2923-2946. Epub 2017 Sep 26 doi: 10.1002/ajmg.a.38420. PMID: 28948695
Castro S, Peraza E, Zapata M
J Clin Ultrasound 2014 Jan;42(1):49-52. Epub 2013 Jan 17 doi: 10.1002/jcu.22034. PMID: 23325749
Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, Martinelli P
Ultrasound Obstet Gynecol 2007 Sep;30(3):354-8. doi: 10.1002/uog.4080. PMID: 17668891
Robinow M, Sonek J, Buttino L, Veghte A
Am J Med Genet 1995 Jul 3;57(3):397-9. doi: 10.1002/ajmg.1320570306. PMID: 7677141
Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J
J Med Genet 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331. PMID: 6502648Free PMC Article

Prognosis

Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G
Am J Med Genet A 2017 Nov;173(11):2923-2946. Epub 2017 Sep 26 doi: 10.1002/ajmg.a.38420. PMID: 28948695
Tonni G, Palmisano M, Lituania M, Grisolia G, Baffico AM, Bonasoni MP, Pattacini P, De Felice C, Araujo Júnior E
Taiwan J Obstet Gynecol 2016 Dec;55(6):771-776. doi: 10.1016/j.tjog.2015.10.027. PMID: 28040117
Castro S, Peraza E, Zapata M
J Clin Ultrasound 2014 Jan;42(1):49-52. Epub 2013 Jan 17 doi: 10.1002/jcu.22034. PMID: 23325749
Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. doi: 10.1016/s0899-7071(02)00496-5. PMID: 12504316
Giacoia GP, Tunnessen WW Jr
Arch Pediatr Adolesc Med 1996 Jul;150(7):761-2. doi: 10.1001/archpedi.1996.02170320107019. PMID: 8673205

Clinical prediction guides

Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G
Am J Med Genet A 2017 Nov;173(11):2923-2946. Epub 2017 Sep 26 doi: 10.1002/ajmg.a.38420. PMID: 28948695
Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. doi: 10.1016/s0899-7071(02)00496-5. PMID: 12504316
Tadmor OP, Hammerman C, Rabinowitz R, Fisher D, Itzchaki M, Aboulafia Y, Diamant YZ
Fetal Diagn Ther 1993 Jul-Aug;8(4):279-84. doi: 10.1159/000263840. PMID: 7903145
Johnson JP, Fineman RM
Am J Med Genet 1982 Oct;13(2):125-30. doi: 10.1002/ajmg.1320130204. PMID: 6753584
Gleiser S, Weaver DD, Escobar V, Nichols G, Escobedo M
Eur J Pediatr 1978 May 22;128(1):1-5. doi: 10.1007/BF00496920. PMID: 668714

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