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Spondyloepimetaphyseal Dysplasia Type Shohat
lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three[malacards.org]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 30%-79% of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly[rarediseases.info.nih.gov]
93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin[malacards.org]
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Systemic Scleroderma
Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia.[ncbi.nlm.nih.gov]
Conversely, thin and flat lips create the illusion of emotional coldness, stress, advanced age, and are considered unattractive 5 .[prime-journal.com]
Full, well defined lips symbolize youth, beauty, attractiveness, and sensuality.[prime-journal.com]
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Sanjad-Sakati Syndrome
The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties.[ncbi.nlm.nih.gov]
Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin lips Tooth decay(fig 2) Dental decay Dental decay Minimal decay Palatal arch Narrow Normal[alliedacademies.org]
lips with a long philtrum. 9 Reply[dailyrounds.org]
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Hallermann Syndrome
[…] calvarium Thin cranial bone 0010539 Thin ribs Slender ribs 0000883 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wormian bones Extra bones within[rarediseases.info.nih.gov]
The mouth is small and the lips are thin. Typically one expects to find that the teeth are irregular, often fully erupted at birth.[healio.com]
[…] vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Fine hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Generalized[rarediseases.info.nih.gov]
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Cerebellotrigeminal Dermal Dysplasia
lips (3) short stature (4) variable intelletual impairment (5) ataxia (6) strabismus (7) clinodactyly (8) corneal opacities (secondary to trigeminal anesthesia and repeated[meducator3.net]
People with Gomez-Lopez-Hernandez Syndrome often have these physical characteristics: short skull( brachycephaly ), thin lips, low-set and posterior-angled ears, and scalp[en.wikipedia.org]
lip * Widely-spaced eyes * Smooth philtrum * Ear abnormalities * Inability to detect pain sensation on skin * Anteverted nostrils Causes - Craniosynostosis alopecia brain[checkorphan.org]
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Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia
lips carp-shaped mouth Skeletal Limbs: short fibula short radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External[malacards.org]
Thin vermilion border MedGen UID: 108294 • Concept ID: C0578038 • Finding Reduced width of the skin of vermilion border region of upper lip.[ncbi.nlm.nih.gov]
About 7 per cent have an associated cleft lip and/or palate.[healio.com]
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Glycogen Storage Disease Type 3
thin vermillion border cardiac anomalies cardiomyopathy ventricular hypertrophy on ECG hepatic anomalies hepatomegaly hepatic fibrosis glycogen hepatocytic overload rarefied[humpath.com]
[…] type 3 (GSD3) Synopsis short stature growth retardation carniofacial anomalies midface hypoplasia deep-set eyes depressed nasal bridge broad upturned nasal tip bow-shaped lips[humpath.com]
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Chromosome 19q13.11 Deletion Syndrome
Third, these patients had typical facial dysmorphisms, such as thin lips (6/6), micro/retrognathia (6/6), large ears (4/6), and long face (4/6).[degruyter.com]
, columella below alae nasi, thin lips, low set ears with large lobules ( b ), and cutis aplasia in midline of scalp ( c ).[nature.com]
lips 10/10 Retro-micrognathia - 11/12 Large ears or low-set ears 11/11 Signs of ectodermal dysplasia Aplasia cutis in midline of scalp - - 9/11 Thin/dry skin - - 6/8 Thin-sparse[molecularcytogenetics.biomedcentral.com]
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Ehlers-Danlos Syndrome Type 4
Other significant findings included a characteristic facies with thin lips and philtrum, a small chin, and a pinched nose.[ijdvl.com]
These feature include large eyes, thin lips, a thin or pinched nose, blue sclera, and underdeveloped earlobes.[forgottendiseases.org]
[…] skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS ([healthline.com]
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Progeroid Facial Appearance with Hand Anomalies
[…] lobes; and thin lips.[primumn0nn0cere.wordpress.com]
Micrognathia and thin lips , large cranium with patent fontanels and frontal bossing.[drmhijazy.com]
lips, and small upturned nose.[e-ijd.org]