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Robinow syndrome, autosomal recessive(RRS)

MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
Synonyms: COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA; COVESDEM SYNDROME; ROR2-Related Disorders; ROR2-Related Robinow Syndrome; RRS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): ROR2 (9q22.31)
OMIM®: 268310
Orphanet: ORPHA1507

Definition

Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow Syndrome See also autosomal dominant Robinow syndrome-1 (DRS1; 180700), caused by mutation in the WNT5A gene (164975) on chromosome 3p, and DRS2 (616331), caused by mutation in the DVL1 gene (601365) on chromosome 1p36. [from OMIM]

Additional description

From GHR
Robinow syndrome is a rare disorder of skeletal development that affects many parts of the body. Researchers have identified two types of Robinow syndrome, which are distinguished by the severity of their signs and symptoms and by their patterns of inheritance. Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, and a wide nasal bridge. Other common features of this disorder include underdeveloped genitalia and dental problems (such as crowded teeth and overgrowth of the gums). Kidney and heart defects are also possible. Delayed development occurs in 10 percent to 15 percent of people with this condition, although intelligence is usually normal. The signs and symptoms of autosomal dominant Robinow syndrome are similar to, but tend to be milder than, those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form.  http://ghr.nlm.nih.gov/condition/robinow-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
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.
Abnormality of female external genitalia
MedGen UID:
446335
Concept ID:
CN000055
Finding
An abnormality of the female external genitalia.
Hypoplastic labia majora
MedGen UID:
500881
Concept ID:
CN000059
Finding
Undergrowth of the outer labia.
Clitoral hypoplasia
MedGen UID:
500882
Concept ID:
CN000060
Finding
Developmental hypoplasia of the clitoris.
Renal duplication
MedGen UID:
504331
Concept ID:
CN000075
Finding
A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hypoplasia of penis
MedGen UID:
506256
Concept ID:
CN007685
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Triangular mouth
MedGen UID:
336578
Concept ID:
C1849341
Finding
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Bifid tongue
MedGen UID:
776572
Concept ID:
C2144663
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
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).
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the palate, i.e., of roof of the mouth).
Oral cleft
MedGen UID:
504390
Concept ID:
CN000196
Finding
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Thin upper lip vermilion
MedGen UID:
507078
Concept ID:
CN000212
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).
Delayed cranial suture closure
MedGen UID:
504414
Concept ID:
CN000256
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
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.
Long palpebral fissure
MedGen UID:
504531
Concept ID:
CN000599
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Dental crowding
MedGen UID:
504553
Concept ID:
CN000638
Finding
Overlapping teeth within an alveolar ridge.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Exaggerated cupid's bow
MedGen UID:
427915
Concept ID:
CN002054
Finding
More pronounced paramedian peaks and median notch of the Cupid's bow.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
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.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Abnormality of dental morphology
MedGen UID:
428219
Concept ID:
CN005644
Finding
An abnormality of the morphology of the tooth.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Absent uvula
MedGen UID:
506346
Concept ID:
CN009124
Finding
Lack of the uvula.
Ankyloglossia
MedGen UID:
506347
Concept ID:
CN009128
Finding
Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
Tented upper lip vermilion
MedGen UID:
506401
Concept ID:
CN116538
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a supernumerary, i.e., extra, tooth or teeth.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Blue sclerae
MedGen UID:
342813
Concept ID:
C1853175
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Posteriorly rotated ears
MedGen UID:
336584
Concept ID:
C1849365
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
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.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Missing ribs
MedGen UID:
278053
Concept ID:
C1406327
Finding
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Vertebral segmentation defect
MedGen UID:
338574
Concept ID:
C1848939
Finding
Duplication of the distal phalanx of hand
MedGen UID:
336580
Concept ID:
C1849343
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Mesomelia
MedGen UID:
342402
Concept ID:
C1850047
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Hypoplastic sacrum
MedGen UID:
370356
Concept ID:
C1970816
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Delayed cranial suture closure
MedGen UID:
504414
Concept ID:
CN000256
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Rib fusion
MedGen UID:
504648
Concept ID:
CN000846
Finding
Complete or partial merging of adjacent ribs.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Broad toe
MedGen UID:
504967
Concept ID:
CN001662
Finding
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Sandal gap
MedGen UID:
504975
Concept ID:
CN001674
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Bifid distal phalanx of toe
MedGen UID:
504976
Concept ID:
CN001675
Finding
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Thoracolumbar scoliosis
MedGen UID:
505416
Concept ID:
CN002665
Finding
Vertebral fusion
MedGen UID:
505419
Concept ID:
CN002669
Finding
A developmental defect leading to the union of two adjacent vertebrae.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Elbow dislocation
MedGen UID:
505438
Concept ID:
CN002748
Finding
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Synostosis of carpal bones
MedGen UID:
505745
Concept ID:
CN004479
Finding
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
428585
Concept ID:
CN005212
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Thoracic hemivertebrae
MedGen UID:
506230
Concept ID:
CN007452
Finding
Absence of one half of the vertebral body in the thoracic spine.
Abnormality of thumb phalanx
MedGen UID:
447087
Concept ID:
CN008467
Finding
A structural anomaly of one or more phalanges of the thumb.
Short distal phalanx of finger
MedGen UID:
426588
Concept ID:
CN008720
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
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.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Ectopic anus
MedGen UID:
505626
Concept ID:
CN003895
Finding
Abnormal displacement or malposition of the anus.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Nail dysplasia
MedGen UID:
384044
Concept ID:
C1857047
Finding
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
Nevus flammeus
MedGen UID:
504699
Concept ID:
CN000987
Finding
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Right ventricular outlet obstruction
MedGen UID:
341433
Concept ID:
C1849344
Finding
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Nevus flammeus
MedGen UID:
504699
Concept ID:
CN000987
Finding
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
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.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Abnormality of the pulmonary valve
MedGen UID:
425064
Concept ID:
CN001494
Finding
An abnormality of the pulmonary valve.
Abnormality of the aorta
MedGen UID:
425067
Concept ID:
CN001528
Finding
An abnormality of the aorta.
Abnormality of the tricuspid valve
MedGen UID:
427890
Concept ID:
CN001548
Finding
An abnormality of the tricuspid valve.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
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.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
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.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Finding
Duplication of the distal phalanx of hand
MedGen UID:
336580
Concept ID:
C1849343
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Mesomelia
MedGen UID:
342402
Concept ID:
C1850047
Finding
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Broad toe
MedGen UID:
504967
Concept ID:
CN001662
Finding
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Sandal gap
MedGen UID:
504975
Concept ID:
CN001674
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Bifid distal phalanx of toe
MedGen UID:
504976
Concept ID:
CN001675
Finding
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Elbow dislocation
MedGen UID:
505438
Concept ID:
CN002748
Finding
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Synostosis of carpal bones
MedGen UID:
505745
Concept ID:
CN004479
Finding
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
428585
Concept ID:
CN005212
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Abnormality of thumb phalanx
MedGen UID:
447087
Concept ID:
CN008467
Finding
A structural anomaly of one or more phalanges of the thumb.
Short distal phalanx of finger
MedGen UID:
426588
Concept ID:
CN008720
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
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.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGRobinow syndrome, autosomal recessive

Recent clinical studies

Diagnosis

Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS
J Clin Res Pediatr Endocrinol 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233. PMID: 24932600Free PMC Article
Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL
Clin Genet 2011 Jul;80(1):15-24. Epub 2011 May 16 doi: 10.1111/j.1399-0004.2011.01683.x. [Epub ahead of print] PMID: 21496006

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