Endocrine Dysfunction
Symptoms of acromegaly include: Abnormally large lips, nose or tongue Abnormally large or swollen hands or feet Altered facial bone structure Body and joint aches Deep voice[secondopiniongroup.com]
Fatigue and weakness Headaches Overgrowth of bone and cartilage and thickening of the skin Sexual dysfunction, including decreased libido Sleep apnea Vision impairment Common[secondopiniongroup.com]
Mucopolysaccharidosis 6
Such characteristics include chubby faces, thickened lips due to the overgrowth of the gums (gingival hypertrophy), an unusually prominent forehead (frontal bossing), and[rarediseases.org]
[symptoma.com] Such characteristics include chubby faces, thickened lips due to the overgrowth of the gums ( gingival hypertrophy ), an unusually prominent forehead (frontal[symptoma.com]
Children with the disorder may have coarse facial features, thick nostrils and lips, dwarfism, and hand deformities.[bmt.umn.edu]
Mucopolysaccharidosis
A distinctive facies with thickening of lips and nostrils as well as an enlarged and protruding tongue forms slowly and may become evident between 2-4 years of age, later[orpha.net]
[…] of the lips, tongue, and nostrils.[rarediseases.org]
Children with the disorder may have coarse facial features, thick nostrils and lips, dwarfism, and hand deformities.[bmt.umn.edu]
Acromegaly
The facial aspect is characteristic and includes a widened and thickened nose, prominent cheekbones, forehead bulges, thick lips and marked facial lines.[orpha.net]
[…] accompanied with body odor protruding jaw voice deepening enlarged lip, nose, and tongue thickened ribs (creating a barrel chest) joint pain degenerative arthritis enlarged[hopkinsmedicine.org]
The main clinical features are broadened extremities (hands and feet), widened, thickened and stubby fingers, and thickened soft tissue.[orpha.net]
Multiple Endocrine Neoplasia Type 2B
Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus.[diseaseinfosearch.org]
lips, nodules on the anterior third of the tongue, abdominal distention, visible peristaltic waves, and roentgenographic evidence of megacolon or diverticulosis of the colon[ncbi.nlm.nih.gov]
Prominent physical features include full lips, thickened eyelids, high arched palate and a marfanoid habitus.[disorders.eyes.arizona.edu]
Gigantism - Acromegaly
This leads to a characteristic appearance of the lower jaw and lips, thickening of the fingers and feet, and enlargement of cartilage structures, such as the nose and adams[tallclub.co.uk]
Other symptoms, like increasingly apparent facial features (thickened lips and protruding brows, for example), don’t appear until the diseases have progressed.[medicaldaily.com]
Definition (NCI) A syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin thickening and swelling of internal organs.[fpnotebook.com]
Multiple Endocrine Neoplasia
Prominent physical features include full lips, thickened eyelids, high arched palate and a marfanoid habitus.[disorders.eyes.arizona.edu]
The thickening of the lips and eyelids are secondary to the mucosal neuromas.[eyerounds.org]
Neuromas often lead to thickening of the lips and tongue and can also appear as pedunculated nodules on these structures.[disorders.eyes.arizona.edu]
Geleophysic Dysplasia 2
Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip[orpha.net]
Figure 2 - Patients 1 and 2: Ocular hypertelorism, small nose, thickened upper lip with long and flat philtrum, and pectus excavatum.[scielo.br]
Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon[orpha.net]
X-Linked Intellectual Disability Type Snyder
[…] lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in[informatics.jax.org]
[…] lower lip, nasal dysarthic speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia[flybase.org]
Snyder-Robinson mental retardation syndrome is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened[malacards.org]
Autosomal-Recessive Robinow Syndrome
[…] megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum - Proptosis / exophthalmos - Rib number anomalies - Scoliosis - Tented upper lip[csbg.cnb.csic.es]
- Thickened / hypertrophic / fibromatous gingivae - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Upslanted palpebral fissures / mongoloid[csbg.cnb.csic.es]