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63 Possible Causes for Delayed Milestone, Hearing Problem, Thick Facial Skin

  • Achondroplasia

    Chronic otitis media can lead to hearing problems. Dental crowding is common. Thoracolumbar kyphosis is very common in infancy.[] This rare condition causes premature joining of the bones of the skull (craniosynostosis), leading to a misshapen head and distinctive facial features, and a skin abnormality[] Motor development of the child is delayed. Milestones such as head control and independent sitting, standing, and ambulation may get delayed by as much as by 6 months.[]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[]

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[] milestones Mean age sitting 10 mth, walking 21 mth, two-word sentence 31 mth 10-15 % require special ed IQ usually within normal range, but mild MR seen in 1/3 Verbal lower[]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[] The most common symptoms that prompted the workup leading to diagnosis were kyphosis ( n  19; 34.5%), delayed acquisition of motor or language milestones ( n  17; 30.9%),[]

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[] They, however, had a history of delayed milestones and impaired adaptive functioning. Family history was noncontributory.[]

  • Mucopolysaccharidosis 3

    Some children have seizures others have visual and hearing problems.[] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[] […] developmental milestones and a plateau in development, followed by progressive and inexorable regression.[]

  • Cerebral Palsy

    Difficulty swallowing Drooling Some people with CP suffer from other medical disorders as well, including: Seizures Intellectual disabilities Learning disabilities Vision or hearing[] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[] Other symptoms of spastic diplegia include delayed milestones, fatigue, seizures, “flexed knees,” and a crouched gait. Legs are often affected more than arms.[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years.[] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[] Young children with Williams syndrome often experience developmental delays.[]

  • Hypothyroidism

    Someone who has hypothyroidism will probably have more than one of the following symptoms: fatigue decreased heart rate progressive hearing loss weight gain problems with[] […] expression, dementia or frank psychosis (myxedema madness) Dermatologic manifestations: Facial puffiness; myxedema; sparse, coarse and dry hair; coarse, dry, scaly and thick[] Patient II was a seven month old male infant with abdominal swelling, bilateral pitting leg oedema, poor weight gain and delayed developmental milestones.[]

  • Kabuki Syndrome

    […] frequent infections hearing problems or hearing loss congenital heart defects, including coarctation of the aorta, ventricular septal defect and atrial septal defect endocrine[] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[] The regular assessment will also allow for the identification of developmental delays and guide the parents towards special education.[]