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Roberts-SC phocomelia syndrome(RBS)

MedGen UID:
95931
Concept ID:
C0392475
Congenital Abnormality; Disease or Syndrome
Synonyms: Appelt-Gerken-Lenz syndrome; Hypomelia hypotrichosis facial hemangioma syndrome; Long bone deficiencies associated with cleft lip-palate; Pseudothalidomide syndrome; RBS; Roberts Syndrome; Roberts syndrome/SC phocomelia; Roberts tetraphocomelia syndrome; SC phocomelia syndrome; SC phocomelia syndrome (mild variant of Roberts syndrome); Tetraphocomelia-cleft palate syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Hypomelia hypotrichosis facial hemangioma syndrome (48718006); Robert's syndrome (48718006); Roberts-SC phocomelia syndrome (48718006); Pseudothalidomide syndrome (48718006); Hypomelia-hypotrichosis-facial hemangioma syndrome (48718006)
 
Gene (location): ESCO2 (8p21.1)
OMIM®: 268300; 269000
Orphanet: ORPHA3103

Disease characteristics

Excerpted from the GeneReview: Roberts Syndrome
Roberts syndrome (RBS) is characterized by prenatal growth retardation (ranging from mild to severe), craniofacial findings (including microcephaly and cleft lip and/or palate) and limb malformations (including bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening). Upper limbs are more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia or hypoplasia, syndactyly, clinodactyly, and elbow and knee flexion contractures. Craniofacial abnormalities include cleft lip and/or cleft palate, premaxillary prominence, micrognathia, microbrachycephaly, malar flattening, downslanted palpebral fissures, widely spaced eyes, exophthalmos resulting from shallow orbits, corneal clouding, underdeveloped ala nasi, beaked nose, and ear malformations. Intellectual disability is reported in the majority of affected individuals. Mortality is high among severely affected pregnancies and newborns. Mildly affected individuals may survive to adulthood. [from GeneReviews]
Authors:
Miriam Gordillo  |  Hugo Vega  |  Ethylin Wang Jabs   view full author information

Additional description

From GHR
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome.Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs.Individuals with Roberts syndrome typically have numerous facial abnormalities, including an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beaked nose. They may have a small head size (microcephaly), and in severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities.Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth. Mildly affected individuals may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts syndrome; however, it is now considered to be a mild variant. "SC" represents the first letters of the surnames of the two families first diagnosed with this disorder.  http://ghr.nlm.nih.gov/condition/roberts-syndrome

Clinical features

Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
constriction in the opening of the aortic valve or of the supravalvular or subvalvular regions.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002).
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.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Abnormal blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Cryptorchidism, unilateral or bilateral
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).
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Clitoral hypertrophy
MedGen UID:
57848
Concept ID:
C0156394
Finding
Hypertrophy of the clitoris.
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Long penis
MedGen UID:
82837
Concept ID:
C0269011
Finding
Penile length more than 2 SD above the mean for age.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Location of the urethral opening on the inferior aspect of the penis.
Enlarged labia minora
MedGen UID:
340305
Concept ID:
C1849358
Finding
Increase in size of the folds of skin between the outer labia.
Phocomelia
MedGen UID:
10721
Concept ID:
C0031575
Congenital Abnormality
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
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 revered to as \
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
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.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Talipes equinovalgus
MedGen UID:
78567
Concept ID:
C0265642
Congenital Abnormality
A deformity of foot and ankle in which the foot is bent down and outwards.
Flexion contracture - elbow
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Hypoplasia of thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Oligodactyly (hands)
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Small-for-dates baby
MedGen UID:
7066
Concept ID:
C0021296
Disease or Syndrome
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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.
Severe intrauterine growth retardation
MedGen UID:
383783
Concept ID:
C1855843
Finding
Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
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.
Posteriorly rotated ear
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Absent earlobe
MedGen UID:
341440
Concept ID:
C1849364
Finding
Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Cranial nerve paralysis
MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Frontal encephalocele
MedGen UID:
98460
Concept ID:
C0431289
Finding
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
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.
Disorder of biliary tract
MedGen UID:
565
Concept ID:
C0005424
Disease or Syndrome
An abnormality of the biliary tree.
Supernumerary spleens
MedGen UID:
75619
Concept ID:
C0266631
Congenital Abnormality
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Flexion contracture - elbow
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Supernumerary spleens
MedGen UID:
75619
Concept ID:
C0266631
Congenital Abnormality
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Premature separation of centromeric heterochromatin
MedGen UID:
340292
Concept ID:
C1849316
Finding
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Phocomelia
MedGen UID:
10721
Concept ID:
C0031575
Congenital Abnormality
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
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 revered to as \
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
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.
Structure of wormian bone
MedGen UID:
65163
Concept ID:
C0222716
Body Part, Organ, or Organ Component
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Flexion contracture - elbow
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Frontal encephalocele
MedGen UID:
98460
Concept ID:
C0431289
Finding
Hypoplasia of thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Oligodactyly (hands)
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Flat midface
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Absent ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Cleft lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
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).
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Structure of wormian bone
MedGen UID:
65163
Concept ID:
C0222716
Body Part, Organ, or Organ Component
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Frontal encephalocele
MedGen UID:
98460
Concept ID:
C0431289
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Coloboma of eyelid
MedGen UID:
141737
Concept ID:
C0521573
Disease or Syndrome
A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.
Thin hypoplastic alae nasi
MedGen UID:
322332
Concept ID:
C1834055
Finding
Thinned, deficient, or excessively arched ala nasi.
Broad flat nasal bridge
MedGen UID:
326959
Concept ID:
C1839764
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Narrow naris
MedGen UID:
336585
Concept ID:
C1849366
Finding
Slender, slit-like aperture of the nostril.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Flat midface
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Flexion contracture - elbow
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Blonde hair
MedGen UID:
116090
Concept ID:
C0239801
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Reduced density of hairs.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRoberts-SC phocomelia syndrome
Follow this link to review classifications for Roberts-SC phocomelia syndrome in Orphanet.

Recent clinical studies

Etiology

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Diagnosis

Ragavan M, Reddy S, Kumar C
Pediatr Surg Int 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8. PMID: 20625748
Maheshwari A, Kumar P, Dutta S, Narang A
Indian J Pediatr 2001 Jun;68(6):557-9. PMID: 11450388
Sherer DM, Shah YG, Klionsky N, Woods JR Jr
Am J Perinatol 1991 Jul;8(4):259-62. doi: 10.1055/s-2007-999392. PMID: 1741870
Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P
Ann Genet 1989;32(3):169-70. PMID: 2817778
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH
Am J Med Genet 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. PMID: 2658590

Prognosis

Ragavan M, Reddy S, Kumar C
Pediatr Surg Int 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8. PMID: 20625748
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984
Song SY, Chi JG
Clin Genet 1996 Dec;50(6):502-4. PMID: 9147883
Tomkins DJ, Sisken JE
Am J Hum Genet 1984 Nov;36(6):1332-40. PMID: 6517054Free PMC Article

Clinical prediction guides

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984
Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P
Ann Genet 1989;32(3):169-70. PMID: 2817778
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH
Am J Med Genet 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. PMID: 2658590

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