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180 Possible Causes for Long Flat Philtrum

  • Trichorhinophalangeal Syndrome Type 1 and 3

    Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border.[genecards.org] A long, flat philtrum and a thin upper vermillion border are highly characteristic.[movementdisorders.org] Genatlas disease for TRPS1 Gene tricho-rhino-phalangeal syndrome I,characterized by sparse scalp hair,a bulbous tip of the nose,a long flat philtrum,a thin upper vermilion[genecards.org]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    Helga V. Toriello , Shelley D. Smith Oxford University Press , ٢٠‏/٠٦‏/٢٠١٣ - 576 من الصفحات This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with[…][books.google.com]

  • Geleophysic Dysplasia

    Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip[rarediseases.info.nih.gov] We found that tip-toeing gait, long flat philtrum and thin upper upper lip were more consistently found in GD patients with ADAMTSL2 mutations than in those with FBN1 mutations[ncbi.nlm.nih.gov]

  • 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] Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip[diseaseinfosearch.org] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[diseaseinfosearch.org]

  • Lateral Meningocele Syndrome

    flat philtrum low set ears Non facial features of this syndrome include hyperextensibility hypotonia lateral meningoceles The lateral meningocoles are a common finding in[en.wikipedia.org] Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears.[malacards.org] flat philtrum and thin upper lip, micrognathia, and low-set ears H-I.[ncbi.nlm.nih.gov]

  • Trichorhinophalangeal Dysplasia Type 1

    flat philtrum and thin upper vermilion border; and • Skeletal defects—cone-shaped epiphyses at phalanges, hip malformations and short stature.[medical-dictionary.thefreedictionary.com] Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border.[genecards.org] […] autosomal dominant condition (OMIM:190350), which is allelic with TRPS type 3, characterised by: • Craniofacial defects—sparse scalp hair, a bulbous tip nose, protruding ears, a long[medical-dictionary.thefreedictionary.com]

  • Trichorhinophalangeal Syndrome

    TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and[ncbi.nlm.nih.gov] Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border.[mybiosource.com] Genatlas disease for TRPS1 Gene tricho-rhino-phalangeal syndrome I,characterized by sparse scalp hair,a bulbous tip of the nose,a long flat philtrum,a thin upper vermilion[genecards.org]

  • Acrorenal Mandibular Syndrome

    flat philtrum, choanal stenosis renal anomalies dysplastic polycystic kidneys bilateral renal agenesis duplex renal collecting system bilateral renal hypoplasia right diaphragmatic[humpath.com] […] craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly rotated ears long[humpath.com]

  • Familial Osteodysplasia

    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]

  • Ring Chromosome 11 Syndrome

    ; palpebral ptosis; bushy double eyebrows; short nose; broad nasal bridge; anteverted nares; prominent columella; small ears; hypoplastic lobus; long, flat philtrum; carp-shaped[ncbi.nlm.nih.gov] Fig. 1 Clinical features of the patient. a Frontal view of the patient. b Facial features: high, prominent, narrow forehead; trigonocephaly; flat occiput; telecanthus; strabismus[karger.com] […] mouth, and a thin upper lip. c Hands: clinodactyly of the 5th finger and camptodactyly. d Feet: flat feet; large, long first toe, and talipes equinovarus.[ncbi.nlm.nih.gov]

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