Question: What is (are) Carpenter syndrome ?
Answer: Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.
Source: GARD

Question: What are the symptoms of Carpenter syndrome ?
Answer: What are the signs and symptoms of Carpenter syndrome? The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits). People with Carpenter syndrome often have intellectual disability (from mild to profound), but some affected people have normal intelligence. Craniosynostosis prevents the skull from growing normally and can cause a pointed appearance of the head; asymmetry of the head and face; increased pressure within the skull; and characteristic facial features. Facial features may include a flat nasal bridge; down-slanting palpebral fissures (the outside corners of the eye); low-set and abnormally shaped ears; underdeveloped jaws; and abnormal eye shape. Vision problems are common. Some people also have dental abnormalities such as small baby teeth. Abnormalities of the fingers and toes may include fusion of the skin between digits; short digits; or extra digits. Other signs and symptoms may include obesity, umbilical hernia, hearing loss, heart defects, and other skeletal abnormalities such as as deformed hips, kyphoscoliosis, and knees that angle inward. Nearly all males have genital abnormalities such as undescended testes. A few affected people have organs or tissues within the torso that are in reversed positions. The Human Phenotype Ontology provides the following list of signs and symptoms for Carpenter 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) Abnormality of the pinna - Agenesis of permanent teeth - Aplasia/Hypoplasia of the corpus callosum - Aplasia/Hypoplasia of the middle phalanges of the hand - Aplasia/Hypoplasia of the middle phalanges of the toes - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Brachydactyly syndrome - Camptodactyly - Cerebral atrophy - Clinodactyly of the 5th finger - Complete duplication of proximal phalanx of the thumb - Conductive hearing impairment - Coronal craniosynostosis - Coxa valga - Cryptorchidism - Depressed nasal bridge - Duplication of the proximal phalanx of the hallux - Epicanthus - External genital hypoplasia - Flared iliac wings - Genu valgum - Genu varum - High palate - Hydronephrosis - Hydroureter - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Joint contracture of the hand - Lambdoidal craniosynostosis - Large foramen magnum - Lateral displacement of patellae - Low-set ears - Malar flattening - Microcornea - Obesity - Omphalocele - Opacification of the corneal stroma - Optic atrophy - Patent ductus arteriosus - Persistence of primary teeth - Polysplenia - Postaxial hand polydactyly - Preauricular pit - Preaxial foot polydactyly - Precocious puberty - Pseudoepiphyses of the proximal phalanges of the hand - Pulmonic stenosis - Sacral dimple - Sagittal craniosynostosis - Scoliosis - Sensorineural hearing impairment - Shallow acetabular fossae - Short neck - Short stature - Spina bifida occulta - Telecanthus - Tetralogy of Fallot - Toe syndactyly - Transposition of the great arteries - Umbilical hernia - Underdeveloped supraorbital ridges - Ventricular septal defect - 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