Possible Causes for mid face hypoplasia Achondroplasia Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar [fpnotebook.com] Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face [biomarin.com] hypoplasia, permanent sway of the lower back, spinal stenosis, recurrent ear infections and obesity.Some of these complications can result in invasive surgeries such as spinal [biomarin.com] Marfan Syndrome flattening, and developmental delay was found to have a TGFBR1 pathogenic variant. [ncbi.nlm.nih.gov] […] sutures Craniofacial findings Dolichocephaly with or without scaphocephaly Tall or prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar [ncbi.nlm.nih.gov] flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia Apparently low-set and posteriorly rotated ears Skeletal findings Dolichostenomelia [ncbi.nlm.nih.gov] Hallermann-Streiff Syndrome flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Narrow mouth Small mouth 0000160 Natal tooth Born with teeth [rarediseases.info.nih.gov] […] symptoms in 30-79% of the cases: Glossoptosis Abnormality of hair texture Abnormality of the fontanelles or cranial sutures High, narrow palate Increased number of teeth Malar [dovemed.com] […] high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Increased number of teeth Extra teeth Increased tooth count Supplemental teeth [ more ] 0011069 Malar [rarediseases.info.nih.gov] Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis Andersen-Tawil Syndrome NORD gratefully acknowledges Rabi Tawil, MD, Professor of Neurology, University of Rochester Medical Center, for assistance in the preparation of this report. Synonyms of Andersen-Tawil Syndrome Andersen syndrome ATS long QT syndrome 7 LQTS7 General Discussion Summary Andersen-Tawil[…] [rarediseases.org] CHARGE Syndrome flattening; unilateral facial nerve paralysis; micrognathia; low-set, cupped ears Facial clefting Tracheoesophageal fistula Congenital heart defects Genitourinary anomalies [emedicine.com] […] nerve abnormalities Characteristic auditory and/or auricular anomalies Minor features include the following: Distinctive facial dysmorphology - Asymmetrical, square face; malar [emedicine.com] Bloom Syndrome Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and[…] [ncbi.nlm.nih.gov] Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome Affiliated tissues include skin, bone and t cells, and related phenotypes are bone pain and malar flattening OMIM : 58 FILS syndrome is characterized by mild facial dysmorphism [malacards.org] flattening Postnatal growth retardation Hypothyroidism Abnormality of the genital system Opportunistic infection Hepatosplenomegaly Primary amenorrhea Sarcoma Short neck [mendelian.co] Seizures Short nose Cortical gyral simplification Short chin Macrocephaly Oxycephaly Long nose Obesity Triangular face Failure to thrive Prominent forehead Deeply set eye Malar [mendelian.co] Axenfeld-Rieger Syndrome Type 3 Mid-face abnormalities include hypertelorism, telecanthus, maxillary hypoplasia with flattening of the mid-face, prominent forehead, and broad, flat nasal bridge. [orpha.net] Kniest Dysplasia Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. [ncbi.nlm.nih.gov] […] contracture 0003273 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hypoplastic pelvis 0008839 Inguinal hernia 0000023 Lumbar kyphoscoliosis 0004619 Malar [rarediseases.info.nih.gov] flattening Zygomatic flattening 0000272 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Motor delay 0001270 Myopia [rarediseases.info.nih.gov] Cerebro-Costo-Mandibular Syndrome flattening Zygomatic flattening 0000272 Nasal speech Nasal voice 0001611 Patent ductus arteriosus 0001643 Polyhydramnios High levels of amniotic fluid 0001561 Posteriorly [rarediseases.info.nih.gov] […] palate Increased palatal height [ more ] 0000218 Horseshoe kidney Horseshoe kidneys 0000085 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar [rarediseases.info.nih.gov] Genee-Wiedemann Syndrome Cryptorchidism ; Cupped ear ; Downslanted palpebral fissures ; Ectropion ; Eyelid coloboma ; Growth delay ; Hypoplasia of the radius ; Hypoplasia of the ulna ; Low-set ears ; Malar [mousephenotype.org] flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 [rarediseases.info.nih.gov] […] pits Facial naevus flammeus Hemihypertrophy Hemihypertrophy Hypoglycaemia Hypoglycaemia Nephromegaly Renal malformation Facial naevus flammeus Hemihypertrophy Hypoglycaemia Mid-face [clinicalepigeneticsjournal.biomedcentral.com] Wiedemann-Rautenstrauch Syndrome Affiliated tissues include skin, bone and eye, and related phenotypes are malar flattening and hypertelorism OMIM : 57 The neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch [malacards.org] Affiliated tissues include skin, bone and heart, and related phenotypes are malar flattening and hypertelorism OMIM : 57 The neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch [malacards.org] flattening Zygomatic flattening 0000272 Narrow mouth Small mouth 0000160 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Pointed chin Pointy chin Small [rarediseases.info.nih.gov] Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses. The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild[…] [ncbi.nlm.nih.gov] Schneckenbecken Dysplasia flattening Micromelia Narrow chest Polyhydramnios Short neck Short ribs Frequently present symptoms in 30-79% of the cases: Abnormality of the fingernails Cryptorchidism [dovemed.com] […] collarbone 0000895 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Malar [rarediseases.info.nih.gov] […] short stature Fibular hypoplasia Hypoplastic ilia Hypoplastic scapulae Hypoplastic vertebral bodies Increased fibular diameter Lateral clavicle hook Lymphedema Macrocephaly Malar [dovemed.com] Williams-Beuren Syndrome Williams syndrome (Williams–Beuren syndrome) is a rare neurodevelopmental disorder characterized by mental retardation, hypercalcemia of infants, heart defects, characteristic facial features ("elfin" facial appearance) and failure to thrive. It is caused by a deletion on chromosome 7. The clinical features of Williams[…] [symptoma.com] Partial Monosomy 18q hypoplasia, flat face, hypertelorism, renal hypoplasia, cardiopathy, cebocephaly, dystonia can be observed. [1], [2] Nearly 85% of the cases have originated from a de novo [jisppd.com] TGIF are associated with holoprosencephaly. [1] Gonodal dysgenesis, menstrual and fertility disorders have been reported. [1] Other abnormalities such as blepharoptosis, mid-facial [jisppd.com] Stickler Syndrome Type 2 Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. [abcam.com] flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Midface retrusion Decreased size of midface Midface deficiency [rarediseases.info.nih.gov] […] bridge Low nasal root [ more ] 0005280 Glaucoma 0000501 Joint hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Long fingers 0100807 Malar [rarediseases.info.nih.gov] Renpenning Syndrome flattening ; Mandibular prognathia ; Microcephaly ; Micrognathia ; Microphthalmia ; Narrow face ; Narrow foot ; Narrow mouth ; Nasal speech ; Pectus excavatum ; Pes cavus [mousephenotype.org] Affiliated tissues include testes, eye and heart, and related phenotypes are malar flattening and pectus excavatum Disease Ontology : 12 An intellectual disability that is [malacards.org] Affiliated tissues include testes, eye and heart, and related phenotypes are malar flattening and intellectual disability Disease Ontology : 12 An intellectual disability [malacards.org] SAMS Syndrome A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…] [ncbi.nlm.nih.gov] Spondyloepimetaphyseal Dysplasia Type SPONASTRIME Mid-face hypoplasia at age 7 years (A); coxa valga with mild constriction of the proximal femora (B); metaphyseal irregularities and radiodense striations and flattening of [updoc.site] Affiliated tissues include bone, and related phenotypes are malar flattening and anteverted nares Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized [malacards.org] Affiliated tissues include bone, and related phenotypes are malar flattening and frontal bossing Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized [malacards.org] Raine Syndrome Other findings included bilateral severe proptosis with optic atrophy, everted lower eyelids, severely hypoplastic nose with choanal atresia, depressed nasal bridge, and mid-face [cags.org.ae] In 1989, Raine et al. described a new syndrome characterised by mid face hypoplasia leading to choanal athresia, hypoplastic nose, exophtalmos, microcephaly, triangular mounth [latunisiemedicale.com] face hypoplasia. [slideplayer.com] Atopic Dermatitis They displayed similar facial features such as malar flattening, a prominent nose with underdeveloped alae nasi, a smooth philtrum, and a thin vermillion of the upper lip. [ncbi.nlm.nih.gov] Non-Syndromic Ocular Stickler Syndrome Type 1 Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. [abcam.com] Clinical findings Type I & II (COL2A1 & COL11A1) Type III (COL11A2) Present case High myopia - Vitreoretinal degeneration - Retinal detachment - Cataracts - Hearing loss Mid-face [hkjpaed.org] hypoplasia Cleft palate/Pierre Robin sequence Anteverted nares Small chin Short stature /- /- Spondyloepiphyseal dysplasia Early-onset osteoarthritis (mild scoliosis) Other [hkjpaed.org] Facioauriculoradial Dysplasia flattening ; Mesomelic arm shortening ; Microtia ; Midface retrusion ; Phocomelia ; Radioulnar synostosis ; Short 2nd metacarpal ; Short humerus ; Short stature ; Shoulder [mousephenotype.org] flattening 32 HP:0000272 23 short stature 32 HP:0004322 24 downslanted palpebral fissures 32 HP:0000494 25 elbow dislocation 32 HP:0003042 26 genu varum 32 HP:0002970 27 [malacards.org] Joint stiffness Anal atresia Shortening of all middle phalanges of the fingers Barrel-shaped chest Ectodermal dysplasia Abnormality of pelvic girdle bone morphology Kyphosis Malar [mendelian.co] Chondrodysplasia Punctata At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. [ncbi.nlm.nih.gov] There is mild mid face hypoplasia and a high arched palate. Life expectancy is normal. [advancedradteaching.com] The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. [ncbi.nlm.nih.gov] Polyps Fifteen year-old adolescent boy with allergic fungal sinusitis causing right proptosis, telecanthus, and malar flattening; position of his eyes is asymmetrical, and his nasal [emedicine.medscape.com] Cleidocranial Dysplasia […] typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow, sloping shoulders that can be apposed at the midline, short stature, mid-face [ncbi.nlm.nih.gov] In addition, mid-face hypoplasia, short stature, skeletal anomalies and osteoporosis are common. [ncbi.nlm.nih.gov] Facial bones are small, mid-face hypoplasia with low nasal bridge, narrow high-arched palate, hypertelorism and conductive deafness may be seen. [jpgmonline.com] Nasal Polyp Fifteen year-old adolescent boy with allergic fungal sinusitis causing right proptosis, telecanthus, and malar flattening; position of his eyes is asymmetrical, and his nasal [emedicine.com] Autosomal Dominant Prognathism Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face [en.wikibooks.org] A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. [e-acfs.org] flattening Ridged nail Positional foot deformity Failure to thrive in infancy Eczema Focal seizures Scarring Hip dysplasia Status epilepticus Heterotopia Narrow palate Bicuspid [mendelian.co] Ondine Syndrome The disadvantages of NiPPV include the potential for mid-face hypoplasia and skin breakdown, as well as less security in the delivery of ventilatory support.22 For all infants [tandfonline.com] It is also important to emphasize that the mask may cause mid-face hypoplasia when introduced from infancy or early childhood [82]. [hindawi.com]
