Question: What is (are) Robinow syndrome ?
Answer: Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene. Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.
Source: GARD

Question: What are the symptoms of Robinow syndrome ?
Answer: What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow 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) Short stature 97% Anteverted nares 95% Short nose 95% Abnormality of dental morphology 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Dental malocclusion 90% Downturned corners of mouth 90% Hypertelorism 90% Hypoplasia of penis 90% Malar flattening 90% Micromelia 90% Short distal phalanx of finger 90% Vertebral segmentation defect 90% Wide mouth 90% Small hand 84% Depressed nasal bridge 78% Bifid tongue 59% Long eyelashes 59% High palate 52% Abnormality of female external genitalia 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Abnormality of the ribs 50% Abnormality of thumb phalanx 50% Cryptorchidism 50% Elbow dislocation 50% Epicanthus 50% Frontal bossing 50% Gingival overgrowth 50% Hearing impairment 50% Kyphosis 50% Long palpebral fissure 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Otitis media 50% Pectus excavatum 50% Preaxial foot polydactyly 50% Proptosis 50% Scoliosis 50% Tented upper lip vermilion 50% Umbilical hernia 50% Upslanted palpebral fissure 50% Narrow palate 46% Low-set ears 45% Retrognathia 44% Nail dysplasia 35% Oral cleft 35% Rhizomelia 35% Short neck 31% Abnormality of the aorta 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the tricuspid valve 7.5% Alopecia 7.5% Atria septal defect 7.5% Blue sclerae 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Increased number of teeth 7.5% Multicystic kidney dysplasia 7.5% Pectus carinatum 7.5% Ptosis 7.5% Recurrent respiratory infections 7.5% Reduced number of teeth 7.5% Sacral dimple 7.5% Sandal gap 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Split hand 7.5% Strabismus 7.5% Synostosis of carpal bones 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Absent uvula - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of toe - Broad thumb - Broad toe - Clinodactyly - Clitoral hypoplasia - Delayed cranial suture closure - Delayed eruption of permanent teeth - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Duplication of the distal phalanx of hand - Flat face - Hydronephrosis - Hypoplasia of midface - Hypoplastic labia majora - Hypoplastic sacrum - Inguinal hernia - Intellectual disability - Macroglossia - Mesomelia - Micropenis - Missing ribs - Nevus flammeus - Posteriorly rotated ears - Radial deviation of finger - Renal duplication - Rib fusion - Right ventricular outlet obstruction - Short hard palate - Short middle phalanx of the 5th finger - Short palm - Thoracic hemivertebrae - Thoracolumbar scoliosis - Triangular mouth - Vertebral fusion - Wide anterior fontanel - Wide nasal bridge - 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: Is Robinow syndrome inherited ?
Answer: How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier. Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person. When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.
Source: GARD

Question: How to diagnose Robinow syndrome ?
Answer: Is genetic testing available for Robinow syndrome? Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause remains unknown. Carrier testing for autosomal recessive Robinow syndrome is possible if the disease-causing mutations have been identified in an affected family member. The Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Source: GARD