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Townes syndrome(TBS)

MedGen UID:
75555
Concept ID:
C0265246
Congenital Abnormality; Disease or Syndrome
Synonyms: Anus, imperforate, with hand, foot and ear anomalies; Deafness, sensorineural, with imperforate anus and hypoplastic thumbs; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; Renal-ear-anal-radial syndrome; TBS; Townes-Brocks syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
SNOMED CT: Townes Brocks syndrome (24750000); Townes syndrome (24750000)
 
Gene (location): SALL1 (16q12.1)
OMIM®: 107480

Disease characteristics

Excerpted from the GeneReview: Townes-Brocks Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation. [from GeneReviews]
Authors:
Jürgen Kohlhase   view full author information

Additional description

From GHR
Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.  https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome

Clinical features

Duane syndrome
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction). In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Most individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head position to align the eyes, and thus can preserve single binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. Approximately 70% of individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
870303
Concept ID:
C4024745
Finding
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Renal hypoplasia
MedGen UID:
57623
Concept ID:
C0156247
Finding
Rectoperineal fistula
MedGen UID:
116110
Concept ID:
C0240880
Anatomical Abnormality
The presence of a fistula between the perineum and the rectum.
Urethral valve
MedGen UID:
120573
Concept ID:
C0266345
Congenital Abnormality
The presence of an abnormal membrane obstructing the urethra.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
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.
Bifid scrotum
MedGen UID:
90968
Concept ID:
C0341787
Congenital Abnormality
Midline indentation or cleft of the scrotum.
Abnormality of the vagina
MedGen UID:
343460
Concept ID:
C1856023
Finding
An abnormality of the vagina.
Abnormal localization of kidney
MedGen UID:
866621
Concept ID:
C4020968
Anatomical Abnormality
An abnormal site of the kidney.
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Partial duplication of thumb phalanx
MedGen UID:
82716
Concept ID:
C0265608
Congenital Abnormality
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
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 revered to as \
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
2-3 toe syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
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.
3-4 toe syndactyly
MedGen UID:
371723
Concept ID:
C1834062
Finding
Syndactyly with fusion of toes three and four.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Pseudoepiphyses of second metacarpal
MedGen UID:
354810
Concept ID:
C1862693
Finding
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Aplasia/Hypoplasia of the 3rd toe
MedGen UID:
349574
Concept ID:
C1862698
Finding
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Triphalangeal thumb
MedGen UID:
504759
Concept ID:
CN001116
Finding
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Split foot
MedGen UID:
504969
Concept ID:
CN001664
Finding
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Clinodactyly of the 5th toe
MedGen UID:
807914
Concept ID:
CN001685
Finding
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
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.
Lower limb asymmetry
MedGen UID:
44089
Concept ID:
C0023221
Finding
A difference in length or diameter between the left and right leg.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Rectoperineal fistula
MedGen UID:
116110
Concept ID:
C0240880
Anatomical Abnormality
The presence of a fistula between the perineum and the rectum.
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Acquired Abnormality
Abnormal narrowing of the anal opening.
Ectopic anus
MedGen UID:
75606
Concept ID:
C0266231
Finding
Abnormal displacement or malposition of the anus.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Bowel incontinence
MedGen UID:
851546
Concept ID:
C2712028
Finding
Duodenal atresia
MedGen UID:
505168
Concept ID:
CN002038
Finding
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Vulcan ear
MedGen UID:
609005
Concept ID:
C0431480
Congenital Abnormality
The presence of a supernumerary, i.e. third, crus of the helix (FMA:61024) in the helix, arising at or above the normal bifurcation of the antihelix.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Finding
A general term for the complete or partial loss of the ability to hear from one or both ears.
External ear malformation
MedGen UID:
335428
Concept ID:
C1846460
Anatomical Abnormality
An abnormality of the external ear.
Overfolding of the superior helices
MedGen UID:
355437
Concept ID:
C1865304
Finding
A condition in which the superior portion of the helix is folded over to a greater degree than normal.
Abnormality of the tragus
MedGen UID:
869734
Concept ID:
C4024162
Anatomical Abnormality
An abnormality of the tragus.
Arnold-Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. Some cause no symptoms and don't need treatment. If you have symptoms, they may include. -Neck pain. -Balance problems. -Numbness or other abnormal feelings in the arms or legs. -Dizziness. -Vision problems. -Difficulty swallowing. -Poor hand coordination. Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Cranial nerve paralysis
MedGen UID:
505987
Concept ID:
CN005942
Finding
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Rectoperineal fistula
MedGen UID:
116110
Concept ID:
C0240880
Anatomical Abnormality
The presence of a fistula between the perineum and the rectum.
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Acquired Abnormality
Abnormal narrowing of the anal opening.
Ectopic anus
MedGen UID:
75606
Concept ID:
C0266231
Finding
Abnormal displacement or malposition of the anus.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Bowel incontinence
MedGen UID:
851546
Concept ID:
C2712028
Finding
Duodenal atresia
MedGen UID:
505168
Concept ID:
CN002038
Finding
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Partial duplication of thumb phalanx
MedGen UID:
82716
Concept ID:
C0265608
Congenital Abnormality
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
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 revered to as \
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
2-3 toe syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
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.
3-4 toe syndactyly
MedGen UID:
371723
Concept ID:
C1834062
Finding
Syndactyly with fusion of toes three and four.
Abnormality of the ribs
MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality
An anomaly of the rib.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Pseudoepiphyses of second metacarpal
MedGen UID:
354810
Concept ID:
C1862693
Finding
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Aplasia/Hypoplasia of the 3rd toe
MedGen UID:
349574
Concept ID:
C1862698
Finding
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Triphalangeal thumb
MedGen UID:
504759
Concept ID:
CN001116
Finding
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Split foot
MedGen UID:
504969
Concept ID:
CN001664
Finding
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Clinodactyly of the 5th toe
MedGen UID:
807914
Concept ID:
CN001685
Finding
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTownes syndrome
Follow this link to review classifications for Townes syndrome in Orphanet.

Recent clinical studies

Etiology

Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J
J Am Acad Audiol 1995 Jan;6(1):80-92. PMID: 7696681
Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J
Clin Pediatr (Phila) 1986 Feb;25(2):100-2. PMID: 3943255

Diagnosis

Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J
J Am Acad Audiol 1995 Jan;6(1):80-92. PMID: 7696681
Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J
Clin Pediatr (Phila) 1986 Feb;25(2):100-2. PMID: 3943255

Prognosis

Miura M, Sando I, Hirsch BE, Orita Y
Int J Pediatr Otorhinolaryngol 2002 Jul 9;64(3):207-16. PMID: 12090948

Clinical prediction guides

Miura M, Sando I, Hirsch BE, Orita Y
Int J Pediatr Otorhinolaryngol 2002 Jul 9;64(3):207-16. PMID: 12090948

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