“There are many symptoms of Pfeiffer Syndrome, and each case is different.”
Pfeiffer Syndrome comes with symptoms, and they can vary from person to person and they can appear differently in each case. Depending on the severity of the case, you may find that there are overlaps between the types. This can be something that you might want to look into if someone you knows exhibit the symptoms of Pfeiffer Syndrome, or to understand the Syndrome better.
Type I
Major Symptoms of Type I Pfeiffer Syndrome can include, but are not limited to:
- Full, High Forehead
- Brachycephalic
- Premature Closing of the Coronal and Sagittal Sutures
- Small Middle Phalanges of Fingers
- Small Nose with a Low Nasal Bridge
- Widely Spaced Eyes
- Narrow Maxilla
- Broad Distal Phalanges of the thumbs and big toes.
- Thumb and Toe Delta Phalanx
- Partial Syndactyly of Second and Third Fingers, as well as Second, Third, and Fourth Toes
Minor Symptoms
- Choanal Atresia
- Laryngomalacia
- Cartilaginous Trachea
- Fused Vertebrae
- Mental Retardation
- Tracheomalacia
- Cloverleaf Skull
- Bronchomalacia
- Hydrocephalus
- Seizures
- Arnold-Chiari Malformation
- Radiohumeral Bone Fusion
- Symphalangism of Index Finger
- Imperforate Anus
- Fifth Finger Clinodactyly
Type II
Major Symptoms of Type II Pfeiffer Syndrome can include, but are not limited to:
- Long Head
- Small Lower Jaw
- Facial Dysmorphism
- Premature Closing of Sagittal Sutures
- Low Set Ears
- Strabismus
- Dysplastic Ears
- Widely Spaced Eyes
- Absent Uvula
- Cleft Palate
- Zygodactyly
- Cloverleaf Skull
- Anomalous Ribs
- Contractures of Large Joints
- Atrial and Ventricular Septal Defects
- Elbow Ankylosis with Bone Fusion
- Visceral Abnormalities
- Cardiovascular Defects
- Mental Retardation
- Kidney Hypoplasia
- Severely Drooping Eyelids
- Tetralogy of Fallot
- Hypogenitalism
- Severe Central Nervous System Symptoms
- Patent Ductus Arteriosus
Type III
Major Symptoms of Type III Pfeiffer Syndrome can include, but are not limited to:
- Elbow Ankylosis
- Long Head with Small Lower Jaw
- Visceral Abnormalities
- Midface Hypoplasia
- Neurological Compromise
- Premature Closing of Sagittal Sutures
- Dysplastic Ears that are Low Set
- Widely Spaced Eyes
- Strabisums
- Mandibular Ankylosis
- Exophahalmos
- Rib abnormalities
- Choanal atresia
- Excavated Eye Papilla
- Aplastic Uvula
- Submucous Cleft Palate
- Presence of Teeth at Birth
- Thin, Wrinkled Abdominal Wall
- Hydrocephalus
- Zygodactyly
- Atrial Septa Defect
- Contractures of Joints
- Congenital Heart Defects
- Infant Death
- Mental Retardation
- Growth Retardation
- Kidney Hypoplasia
- Pulmonary Stenosis
- Fixed Flexion Deformity in the Knees
- Ventricular Septal Defect
- Pulmonary Stenosis
- Patent Ductus Arteriosus
- Hypogenitalism
- Intestinal Malrotation
- Vesiculoureteral Reflux
There is a long list of symptoms for each of the types, but you have to keep in mind that each person is different depending on the severity of the disease. Each of the types can be different from one another, and the symptoms should be checked and diagnosed by an actual doctor.
The symptoms that are provided on this page provide the user with a long list of possible symptoms and signs of someone that has Pfeiffer Syndrome. Even though the symptoms have been compiled from different, reputable sources, a doctor or health care provider should be seen in order to accurately diagnose and treat Pfeiffer Syndrome. Each person can be diagnosed differently depending on the severity of their own case. The symptoms that are exhibited in one person, may not be the same in another person when they both have Pfeiffer Syndrome. This is why seeking actual medical advice is necessary.