Question: What is (are) Roberts syndrome ?
Answer: Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.
Source: GARD

Question: What are the symptoms of Roberts syndrome ?
Answer: What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: How to diagnose Roberts syndrome ?
Answer: How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Source: GARD