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179 Possible Causes for Inverted-V-Shaped Mouth, Smooth Philtrum

  • Multicore Myopathy

    Abstract Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. Patients had clinical[…][ncbi.nlm.nih.gov]

    Missing: Smooth Philtrum
  • Congenital Disorder of Glycosylation Type 1E

    Abstract CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in[…][ncbi.nlm.nih.gov]

    Missing: Smooth Philtrum
  • Sener Syndrome

    philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly[malacards.org] philtrum 0000319 Sporadic No previous family history 0003745 Umbilical hernia 0001537 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad[rarediseases.info.nih.gov] System: developmental delay hypoplastic corpus callosum dilated virchow-robin spaces Genitourinary External Genitalia Male: inguinal hernia short penis Head And Neck Face: smooth[malacards.org]

    Missing: Inverted-V-Shaped Mouth
  • Acrofacial Dysostosis Type Catania

    philtrum Frequently present symptoms in 30-79% of the cases: Abnormal hair pattern Bilateral single transverse palmar creases Cryptorchidism Delayed skeletal maturation Feeding[dovemed.com] […] nose Shortened nose [ more ] 0003196 Short palm 0004279 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Smooth[rarediseases.info.nih.gov] […] palpebral fissures Finger syndactyly High forehead Hypoplasia of the zygomatic bone Intellectual disability, mild Microcephaly Microretrognathia Short nose Short palm Small hand Smooth[dovemed.com]

    Missing: Inverted-V-Shaped Mouth
  • Teebi-Shaltout Syndrome

    Eyes: hypertelorism ptosis telecanthus bilateral epicanthal folds microphthalmia (family a) Chest External Features: pectus excavatum pectus carinatum Head And Neck Face: smooth[malacards.org] philtrum, telecanthus (corners of eyes widely separated), underdeveloped nasal alae, wide mouth and wide nasal bridge.[xpertdox.com] philtrum prominent forehead low anterior hairline narrow forehead high-arched eyebrows Skin Nails Hair Hair: sparse hair slow-growing hair Skeletal Hands: camptodactyly ulnar[malacards.org]

    Missing: Inverted-V-Shaped Mouth
  • Fetal Disorder

    philtrum (the area between nose and upper lip), thin upper lip, small palpebral fissures (the horizontal eye openings) Growth deficit (lower than average height, weight or[healthychildren.org] The spectrum of features include: Facial/oral short palpebral fissures epicanthus smooth philtrum mid facial hypoplasia long thin upper lip delayed dental development 3 Cranial[radiopaedia.org] Diagnosis Children: Diagnosis of FAS is based on a combination of: history of prenatal alcohol exposure; characteristic facial features (smooth philtrum, thin vermilion border[vkc.mc.vanderbilt.edu]

    Missing: Inverted-V-Shaped Mouth
  • Trisomy 17p

    philtrum, high-arched palate, and a short broad neck.[ncbi.nlm.nih.gov] Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia[ncbi.nlm.nih.gov] philtrum, and abnormal ears.[jnnp.bmj.com]

    Missing: Inverted-V-Shaped Mouth
  • Fetal Alcohol Syndrome

    ., short stature, as well as all three characteristic facial abnormalities-short palpebral fissure length, a thin upper lip, and a smooth philtrum.[ncbi.nlm.nih.gov] Documentation of all 3 facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral fissures) 2. Documentation of growth deficits 3.[aap.org] The spectrum of features include: Facial/oral short palpebral fissures epicanthus smooth philtrum mid facial hypoplasia long thin upper lip delayed dental development 3 Cranial[radiopaedia.org]

    Missing: Inverted-V-Shaped Mouth
  • Autosomal Recessive Mental Retardation 5

    Neurologic Central Nervous System: dysarthria hyperreflexia delayed psychomotor development seizures (rare) mental retardation, moderate to severe more Head And Neck Face: smooth[malacards.org] philtrum, and a large open mouth with a downturning upper lip.[cags.org.ae] philtrum short philtrum narrow face long face small chin Muscle Soft Tissue: hypertonia distal myopathy (in 1 family) Growth Weight: postnatal growth retardation low birth[malacards.org]

    Missing: Inverted-V-Shaped Mouth
  • Urioste Martinez-Frias Syndrome

    Eyes: hypertelorism downslanting palpebral fissures prominent eyes Head And Neck Neck: short neck redundant nuchal skin Abdomen Spleen: splenomegaly Head And Neck Face: smooth[malacards.org] Neck Eyes: hypertelorism downslanting palpebral fissures prominent eyes Head And Neck Neck: short neck redundant nuchal skin AbdomenSpleen: splenomegaly Head And Neck Face: smooth[malacards.org] Smooth philtrum MedGen UID: 222980 • Concept ID: C1142533 • Finding Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base[ncbi.nlm.nih.gov]

    Missing: Inverted-V-Shaped Mouth

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