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31 Possible Causes for Deep Prominent Philtrum, Short Stature in Children

  • Freeman-Sheldon Syndrome

    , ptosis, a long philtrum, pronounced nasolabial folds, full cheeks, deep-set eyes, down-slanting palpebral fissures, strabismus, and an "H" or "V" shaped chin dimple.[symptoma.com] ) Deep folds in the skin between the nose and lips (nasolabial folds) Full cheeks Prominent forehead Raised mark on the chin in the shape of an H or V Other Characteristics[craniofacialteamtexas.com] , a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks , and a chin dimple shaped like an "[ghr.nlm.nih.gov]

  • Partial Trisomy 21

    , an open mouth, thin upper vermilion and broad everted lower lip, low-set ears with prominent anthelix and deep concha, broad hands with simian creases, a short neck, and[ncbi.nlm.nih.gov] Affected children may be below average height for their age (short stature). In some cases, affected children have been diagnosed with growth hormone deficiency.[rarediseases.org] In addition, children with DS may have a single palmar crease, short hands and fingers, clinodactyly, sandal gap deformity, and plantar furrow.[symptoma.com]

  • Hypertelorism

    philtrum, and a prominent forehead.[ncbi.nlm.nih.gov] Skeletal anomalies such as short stature, high palate, craniosynostosis, scoliosis, pes planus, hand contractures, and joint hypermobility have been reported.[disorders.eyes.arizona.edu] […] reviewed the previous reports of THS and note a characteristic facial appearance with hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep[ncbi.nlm.nih.gov]

  • Chromosome 17p13.1 Deletion Syndrome

    Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org] Deletions of the Homeobox gene SHOX (short stature Homeobox) are an important cause of growth failure in children with short stature.[labcorp.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    Note the small stature, the flexure posture of the extremities and the kyphosis and the face with deep set eyes, prominent nose, long philtrum and large low set ear pinna[docslide.com.br] Cockayne syndrome is characterized by premature aging and short stature.[consultant360.com] , Ears Large ear pinnae, Eyes Cataracts, Blepharophimosis, Microphthalmia, Deep-set eyes, Nystagmus, Nose Prominent nasal root, Mouth Upper lip overlaps lower lip REFERENCES[datapunk.net]

  • Sanjad-Sakati Syndrome

    Facial dysmorphic features included frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum, micrognathia, large floppy ears, bifid uvula, and[cags.org.ae] […] with this syndrome are born low-birth-weight due to intrauterine growth retardation.The child is short stature with demonstrable growth hormone deficiency and the dysmorphism[dailyrounds.org] Sudan J Paediatr 2011 ;11(1):43-47. 42 SUDANESE JOURNAL OF PAEDIATRICS Vol. 11, No. 1 feet, prominent forehead, deep-set eyes, large low set big ears, beaked nose, depressed[docksci.com]

  • Microcephalic Primordial Dwarfism Type Alazami

    […] forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate[orpha.net] All are characterized by small body size and short stature that begins early in fetal development. Pictures 1.[healthline.com] […] genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent[orpha.net]

  • Thanatophoric Dysplasia Glasgow Variant

    philtrum Prominent forehead Oxycephaly Pes planus Intellectual disability, moderate Coloboma Microcornea Long eyelashes Knee flexion contracture Chorioretinal coloboma Ventricular[mendelian.co] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] Hearing impairment Generalized hypotonia Autism Gait ataxia Coxa valga Astigmatism Micropenis Accelerated skeletal maturation Hypotelorism Periorbital fullness Retrognathia Deep[mendelian.co]

  • Ring Chromosome 15

    Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org] ., mental retardation, short stature, craniofacial abnormalities, congenital heart defects, etc.].)[rarediseases.org] NORD Member Organizations Children’s Craniofacial Association 13140 Coit Road Suite 517 Dallas, TX 75240 USA Phone: (214) 570-9099 Toll-free: (800) 535-3643 Email: contactCCA[rarediseases.org]

  • Ring Chromosome 21 Syndrome

    Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org] In addition, some older children with 22q11.2 deletion have problems with growth (called short stature) and may require growth hormone therapy.[chop.edu] short stature.[family-friendly-fun.com]

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