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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.[orpha.net] 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[ghr.nlm.nih.gov] 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.[boneandspine.com]

  • Mucopolysaccharidosis 1

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

  • Noonan Syndrome

    Children suspected of having Noonan syndrome should be screened for heart, vision, and hearing problems.[merckmanuals.com] They can also present with thick hooded eyelids, wrinkled skin and a high anterior hair line, albeit all aforementioned facial features can be subtle.[news-medical.net] 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[en.wikibooks.org]

  • Mucopolysaccharidosis 1H

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[verywell.com] […] 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[dx.doi.org] 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%),[ojrd.biomedcentral.com]

  • Mucopolysaccharidosis 2

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

  • Mucopolysaccharidosis 3

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

  • 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[childrens.uvahealth.com] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org] Other symptoms of spastic diplegia include delayed milestones, fatigue, seizures, “flexed knees,” and a crouched gait. Legs are often affected more than arms.[cerebralpalsyguidance.com]

  • 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.[icdlist.com] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org] Young children with Williams syndrome often experience developmental delays.[williams-syndrome.org]

  • 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[medical-dictionary.thefreedictionary.com] […] expression, dementia or frank psychosis (myxedema madness) Dermatologic manifestations: Facial puffiness; myxedema; sparse, coarse and dry hair; coarse, dry, scaly and thick[merckmanuals.com] Patient II was a seven month old male infant with abdominal swelling, bilateral pitting leg oedema, poor weight gain and delayed developmental milestones.[ncbi.nlm.nih.gov]

  • 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[childrenshospital.org] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com] The regular assessment will also allow for the identification of developmental delays and guide the parents towards special education.[mddk.com]