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203 Possible Causes for Long Midface

  • Chromosome 4q32.1-q32.2 Triplication Syndrome

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Head: macrocephaly Head And Neck Face: frontal bossing short philtrum microretrognathia long midface hypoplastic[malacards.org] The three sons share with their mother the following facial features: long midface, myopathic face, wide nasal bridge, short nose, short palpebral fissures, and low set, small[ashg.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities.[resourcerepository.org] Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw.[ghr.nlm.nih.gov] […] dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long[resourcerepository.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities.[globalgenes.org] Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw.[ghr.nlm.nih.gov] […] dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long[childnervoussystem.blogspot.com]

  • Spondyloepimetaphyseal Dysplasia Type Aggrecan

    […] characteristic radiographic findings.EpidemiologyTo date, three cases have been described, all originating from the same family.Clinical descriptionFacial features include midface[malacards.org] […] bridge and rhizomelia UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface[malacards.org] Imaging Long bones with irregular epiphyses and widened metaphyses, especially of the knees, platyspondyly, and multiple cervical-vertebral clefts.[newmedicalterms.com]

  • Three M Syndrome

    Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface[cags.org.ae] […] philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing.[3msyndrome.wordpress.com] , full eyebrows, fleshy nose tip, long philtrum, prominent mouth and lips, and pointed chin.[doi.org]

  • Bent Bone Dysplasia

    Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org] […] disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis , underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia , and bent long[rarediseases.info.nih.gov] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia).[malacards.org]

  • FGFR2-Related Bent Bone Dysplasia

    Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org] […] disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis , underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia , and bent long[rarediseases.info.nih.gov] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia).[malacards.org]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    […] philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease of fifth[malacards.org] Other: growth retardation, progressive Voice: high-pitched, coarse voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face: long[malacards.org]

  • Oto-spondylo-megaepiphyseal Dysplasia

    They had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and non-progressive sensorineural[ncbi.nlm.nih.gov] Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate /bifid uvula[rarediseases.info.nih.gov] Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/bifid uvula[orpha.net]

  • Facioauriculoradial Dysplasia

    […] philtrum midface hypoplasia Chest Ribs Sternum Clavicles And Scapulae: long clavicles hook-shaped clavicle Neurologic Central Nervous System: normal intelligence Skeletal[malacards.org] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Ears: microtia conductive hearing loss absent stapedial reflex external auditory canal stenosis Head And Neck Face: long[malacards.org]

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