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{{Fanconi anemia}}
{{Fanconi anemia}}


{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{shyam}}


==Overview==
==Overview==
'''CLINICAL FEATURES'''
The most common presenting features of FA are congenital malformations. Cytopenias are also common, and many patients eventually develop bone marrow failure. Common malignancies include myelodysplastic syndrome (MDS), leukemia, and solid tumors, especially squamous cell cancers (SCC).
 
'''Congenital anomalies''' — Congenital malformations are the most common presenting features of FA. Malformations are reported in 60 to 75 percent of patients, but many in the field believe this represents an underestimate, as many patients with FA do not manifest with classical findings. 
 
Young adults with more subtle clinical findings increasingly may be identified from genomic sequencing. Despite the high frequency of malformations, only a small percentage of patients with FA (<5 percent) are diagnosed within the first year of life based on classic congenital anomalies. Thus, while the presence of these findings provides an important clue to the diagnosis, their absence does not eliminate the possibility of FA.
 
In a series of 370 patients enrolled in the International FA Registry and a review of over 2000 patients reported in the literature from 1927 to 2009, the most common developmental abnormalities included the following.
 
● Skin findings (approximately 40 to 60 percent), including hyper- or hypopigmentation or café-au-lait spots
 
● Short stature (40 to 60 percent)
 
● Thumb or other radial ray abnormalities (50 percent)
 
• Thumbs absent or hypoplastic, bifid/duplicated, rudimentary, triphalangeal (35 percent)
 
• Radii absent or hypoplastic (7 percent)
 
• Hands/other such as flat thenar eminence, clinodactyly, polydactyly, missing first metacarpal, dysplastic ulnae (6 percent)
 
● Axial skeletal abnormalities (25 percent), especially microcephaly, triangular facies, short/webbed neck, vertebral anomalies
 
● Eye malformations (20 to 40 percent), including strabismus and hypo/hypertelorism
 
● Renal and urinary tract malformations (approximately 20 to 30 percent) including horseshoe, ectopic, dysplastic, or absent kidney; hydronephrosis; hydroureter
 
● Gonadal/Genital malformations
 
• In males, hypospadias, micropenis, undescended/absent testes, infertility (25 percent)
 
• In females, uterus malformation, small ovaries, hypogenitalia (<5 percent)
 
● Ear abnormalities (10 to 20 percent) with conductive hearing loss due to middle ear anomalies or atretic ear canal
 
● Congenital heart disease (approximately 5 percent) such as patent ductus arteriosus, ventricular septal defect, aortic coarctation, truncus arteriosus
 
● Gastrointestinal anomalies (approximately 5 percent) such as tracheoesophageal fistula, esophageal atresia, intestinal atresia, imperforate anus
 
● Central nervous system abnormalities (<5 percent) involving the pituitary gland (eg, small, interrupted pituitary stalk syndrome), hydrocephalus, cerebellar hypoplasia, or absent corpus callosum.


==Physical Examination==
==Physical Examination==
* Physical examination of patients with [disease name] is usually normal.
* Congenital malformations are the most common presenting features of FA.
OR
*Physical examination of patients with [disease name] is usually remarkable for:[finding 1], [finding 2], and [finding 3].
*The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
 
===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with FA usually present with hypo/hyperpigmentation, café-au-lait spots, short staure and thumb or other radial abnormalities.  


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*Usually normal sometime patients present with fever due to superimposed infection.
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
* Skin abnormalities in Fanconi anemia can include generalized hyperpigmentation on the trunk, neck, and intertriginous areas, the aforementioned café au lait spots, and hypopigmented areas. Delicate features can also be characteristic of patients.
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[Pallor]]
* Bruises
 
<gallery widths="150px">
 
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>


===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
* Head and face - Microcephaly, hydrocephalus, micrognathia, peculiar face, bird face, flat head, frontal bossing, scaphocephaly, sloped forehead, choanal atresia.
OR
* Eyes - Small, strabismus, epicanthal folds, hypertelorism, ptosis, slanted, cataracts, astigmatism, blindness, epiphora, nystagmus, proptosis, small iris
* Abnormalities of the head/hair may include ___
* Ears - Deaf (usually conductive), abnormal shape, atresia, dysplasia, low-set, large, small, infections, abnormal middle ear, absent drum, dimples, rotated, canal stenosis
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae
 
===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck - Sprengel abnormality, short, low hairline, webbed
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]
 
===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
* No significant chest findings present usually.
OR
* Asymmetric chest expansion / Decreased chest expansion
*Lungs are hypo/hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds / Distant breath sounds
*Expiratory/inspiratory wheezing with normal / delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]
 
===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
* No significant CVS findings present usually.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope
 
===Abdomen===
===Abdomen===
Abdominal examination of patients with [disease name] is usually normal.
GI system - High-arch palate, atresia (eg, esophagus, duodenum, jejunum), imperforate anus, tracheoesophageal fistula, Meckel diverticulum, umbilical hernia, hypoplastic uvula, abnormal biliary ducts, megacolon, abdominal diastasis, Budd-Chiari syndrome


OR
'''BACK'''
*[[Abdominal distention]]
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
Neck - Sprengel abnormality, short, low hairline, webbed.
* Back examination of patients with [disease name] is usually normal.
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


Spine - Spina bifida (thoracic, lumbar, cervical, occult sacral), scoliosis, abnormal ribs, sacrococcygeal sinus, Klippel-Feil syndrome, vertebral anomalies, extra vertebrae.
===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
* Gonads may display the following abnormalities:
OR
* Males - Hypogenitalia, undescended testes, hypospadias, abnormal or absent testis, atrophic testes, azoospermia, phimosis, abnormal urethra, micropenis, delayed development
*A pelvic/adnexal mass may be palpated
* Females - Hypogenitalia; bicornuate uterus; aplasia of uterus and vagina; atresia of uterus, vagina, or ovary/ovaries
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
 
===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
Neuromuscular findings are non significant.
OR
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
OR
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
'''Upper limb abnormalities''' can include the following features:
* Thumbs - Absent or hypoplastic, supernumerary, bifid, rudimentary, short, low set, attached by a thread, triphalangeal, tubular, stiff, hyperextensible<ref name="pmid16825431">{{cite journal| author=Alter BP, Rosenberg PS, Brody LC| title=Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. | journal=J Med Genet | year= 2007 | volume= 44 | issue= 1 | pages= 1-9 | pmid=16825431 | doi=10.1136/jmg.2006.043257 | pmc=2597904 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16825431  }}</ref>
* Radii - Absent or hypoplastic (only with abnormal thumbs [ie, terminal defects]), absent or weak pulse
* Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal fingers, short fingers
* Ulnae - Dysplastic
 
==== '''Lower limb Abnormalities''' can include the following features: ====
*Feet - Toe syndactyly, abnormal toes, flat feet, short toes, clubfoot, 6 toes
*Legs - Congenital hip dislocation, Perthes disease, coxa vara, abnormal femur, thigh osteoma, abnormal legs.
 
=== References ===
{{Reflist|2}}
{{Reflist|2}}


Latest revision as of 17:21, 4 May 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]

Overview

The most common presenting features of FA are congenital malformations. Cytopenias are also common, and many patients eventually develop bone marrow failure. Common malignancies include myelodysplastic syndrome (MDS), leukemia, and solid tumors, especially squamous cell cancers (SCC).

Physical Examination

  • Congenital malformations are the most common presenting features of FA.

Appearance of the Patient

  • Patients with FA usually present with hypo/hyperpigmentation, café-au-lait spots, short staure and thumb or other radial abnormalities.

Vital Signs

  • Usually normal sometime patients present with fever due to superimposed infection.

Skin

  • Skin abnormalities in Fanconi anemia can include generalized hyperpigmentation on the trunk, neck, and intertriginous areas, the aforementioned café au lait spots, and hypopigmented areas. Delicate features can also be characteristic of patients.

HEENT

  • Head and face - Microcephaly, hydrocephalus, micrognathia, peculiar face, bird face, flat head, frontal bossing, scaphocephaly, sloped forehead, choanal atresia.
  • Eyes - Small, strabismus, epicanthal folds, hypertelorism, ptosis, slanted, cataracts, astigmatism, blindness, epiphora, nystagmus, proptosis, small iris
  • Ears - Deaf (usually conductive), abnormal shape, atresia, dysplasia, low-set, large, small, infections, abnormal middle ear, absent drum, dimples, rotated, canal stenosis

Neck

  • Neck - Sprengel abnormality, short, low hairline, webbed

Lungs

  • No significant chest findings present usually.

Heart

  • No significant CVS findings present usually.

Abdomen

GI system - High-arch palate, atresia (eg, esophagus, duodenum, jejunum), imperforate anus, tracheoesophageal fistula, Meckel diverticulum, umbilical hernia, hypoplastic uvula, abnormal biliary ducts, megacolon, abdominal diastasis, Budd-Chiari syndrome

BACK

Neck - Sprengel abnormality, short, low hairline, webbed.

Spine - Spina bifida (thoracic, lumbar, cervical, occult sacral), scoliosis, abnormal ribs, sacrococcygeal sinus, Klippel-Feil syndrome, vertebral anomalies, extra vertebrae.

Genitourinary

  • Gonads may display the following abnormalities:
  • Males - Hypogenitalia, undescended testes, hypospadias, abnormal or absent testis, atrophic testes, azoospermia, phimosis, abnormal urethra, micropenis, delayed development
  • Females - Hypogenitalia; bicornuate uterus; aplasia of uterus and vagina; atresia of uterus, vagina, or ovary/ovaries

Neuromuscular

Neuromuscular findings are non significant.

Extremities

Upper limb abnormalities can include the following features:

  • Thumbs - Absent or hypoplastic, supernumerary, bifid, rudimentary, short, low set, attached by a thread, triphalangeal, tubular, stiff, hyperextensible[1]
  • Radii - Absent or hypoplastic (only with abnormal thumbs [ie, terminal defects]), absent or weak pulse
  • Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal fingers, short fingers
  • Ulnae - Dysplastic

Lower limb Abnormalities can include the following features:

  • Feet - Toe syndactyly, abnormal toes, flat feet, short toes, clubfoot, 6 toes
  • Legs - Congenital hip dislocation, Perthes disease, coxa vara, abnormal femur, thigh osteoma, abnormal legs.

References

  1. ↑ Alter BP, Rosenberg PS, Brody LC (2007). "Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2". J Med Genet. 44 (1): 1–9. doi:10.1136/jmg.2006.043257. PMC 2597904. PMID 16825431.

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