Mid-Face Hypoplasia: Causes & Reasons

Possible Causes for Mid-Face Hypoplasia

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]

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]

shortened roots, delayed eruption and cone-shaped teeth)[1,9,10] Craniofacial anomalies (prominent forehead, hypertelorism, telecanthus, mid-face hypoplasia, broad flat [gene.vision]

However, several other systemic manifestations have also been described and are summarised below: Dental defects (micro-, hypo-, oligo-, and/or anodontia, taurodontism, enamel hypoplasia [gene.vision]

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

Malar flattening MedGen UID: 347616 •Concept ID: C1858085 • Anatomical Abnormality Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), [ncbi.nlm.nih.gov]

flattening Micrognathia Odontoid hypoplasia Pectus excavatum Platyspondyly Posterior rib cupping Progressive calcification of costochondral cartilage Scoliosis Short long [ncbi.nlm.nih.gov]

[…] subluxation Elbow flexion contracture Epiphyseal stippling Flared iliac wing Flared metaphysis Frontal bossing Generalized hypotonia Genu varum Hypotonia Knee flexion contracture Malar [ncbi.nlm.nih.gov]

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]

Note flat mid-face, depressed nasal bridge. Cardiac examination was normal. Retinal immaturity was observed. [ojrd.biomedcentral.com]

Clinical evaluation showed a flat face, apparent hypertelorism, depressed nasal bridge, small upturned nose, midface hypoplasia, micrognathia, ulnar deviation of hands and [ojrd.biomedcentral.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]

Showing of 21 | 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Cleft palate 0000175 Long philtrum 0000343 Malar flattening Zygomatic flattening 0000272 [rarediseases.info.nih.gov]

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]

Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face [widesmiles2.org]

Diseases related with Ptosis and Malar flattening In the following list you will find some of the most common rare diseases related to Ptosis and Malar flattening that can [mendelian.co]

hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies [widesmiles2.org]

Schneckenbecken Dysplasia

Gestational age Premature Term Therapeutic abortions Stillbirth Malelfemale Clinical findings Birth weight (g) Birth length (cm) Head circumference (cm) Large head Short neck Flat mid-face [documents.tips]

flattening Metaphyseal irregularity Narrow chest Narrow vertebral interpedicular distance Ovoid vertebral bodies Platyspondyly Short long bone Short ribs Snail-like ilia [ncbi.nlm.nih.gov]

flattening Midface retrusion Severe short stature Polyhydramnios And another 32 symptoms. [mendelian.co]

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]

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]

Andersen-Tawil Syndrome

flattening Zygomatic flattening 0000272 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head [rarediseases.info.nih.gov]

[…] retrusion [ more ] 0000327 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar [rarediseases.info.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]

Bloom Syndrome

Malar flattening MedGen UID: 347616 •Concept ID: C1858085 • Anatomical Abnormality Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), [ncbi.nlm.nih.gov]

flattening Zygomatic flattening 0000272 Narrow face Decreased breadth of face Decreased width of face [ more ] 0000275 Postnatal growth retardation Growth delay as children [rarediseases.info.nih.gov]

flattening Microcephaly Abnormality of the nervous system Intellectual disability, mild Specific learning disability Abnormality of the respiratory system Bronchiectasis [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]

flattening　(平坦な頬部)　[HP:0000272]　[05200] 　Micrognathia　(小顎)　[HP:0000347]　[05401] 　Narrow mouth　(狭い口)　[HP:0000160]　[0801] 　Natal tooth　(新生児歯)　[HP:0000695]　[08306] 　Recurrent [syndromefinder.ncchd.go.jp]

Genee-Wiedemann Syndrome

[…] pits Facial naevus flammeus Hemihypertrophy Hemihypertrophy Hypoglycaemia Hypoglycaemia Nephromegaly Renal malformation Facial naevus flammeus Hemihypertrophy Hypoglycaemia Mid-face [clinicalepigeneticsjournal.biomedcentral.com]

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]

CHARGE Syndrome

flattening; unilateral facial nerve paralysis; micrognathia; low-set, cupped ears Facial clefting Tracheoesophageal fistula Congenital heart defects Genitourinary anomalies [emedicine.com]

The 12 Cranial Nerves: Overview and Functions palsy Palsy paralysis of an area of the body, thus incapable of voluntary movement Cranial Nerve Palsies, malar flattening, micrognathia [lecturio.com]

[…] nerve abnormalities Characteristic auditory and/or auricular anomalies Minor features include the following: Distinctive facial dysmorphology - Asymmetrical, square face; malar [emedicine.com]

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]

Renpenning Syndrome

Renal hypoplasia Abnormality of the integument Brittle hair Sparse hair Abnormality of the musculoskeletal system Brachycephaly Camptodactyly Joint contracture of the hand Malar [ncbi.nlm.nih.gov]

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]

Spondyloepiphyseal Dysplasia Congenita

flattening Zygomatic flattening 0000272 Muscular hypotonia Low or weak muscle tone 0001252 Neonatal short-trunk short stature 0008857 Ovoid vertebral bodies 0003300 Pectus [rarediseases.info.nih.gov]

[…] mobility Limited elbow mobility Restricted elbow motion [ more ] 0002996 Limited hip movement 0008800 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Malar [rarediseases.info.nih.gov]

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]

Autosomal Recessive Cutis Laxa Type 1C

Affiliated tissues include lung, skin and myeloid, and related phenotypes are malar flattening and hypertelorism Disease Ontology : 12 A autosomal recessive cutis laxa type [malacards.org]

Malar flattening MedGen UID: 347616 •Concept ID: C1858085 • Anatomical Abnormality Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), [ncbi.nlm.nih.gov]

Lateral Meningocele Syndrome

Persons w/MFS may also have joint laxity, scoliosis, cardiovascular anomalies, & some shared facial features (e.g., malar flattening & retrognathia). [ncbi.nlm.nih.gov]

Craniofacial features include widely spaced eyes with downslanted palpebral fissures, highly arched eyebrows, ptosis, malar flattening, long philtrum, thin vermilion of the [ncbi.nlm.nih.gov]

NOTCH2 Hadju-Cheney syndrome (OMIM 102500) AD Skeletal disorder characterized by dysmorphic facial features (e.g., malar flattening, thick eyebrows, micrognathia), osteoporosis [ncbi.nlm.nih.gov]

Acrofacial Dysostosis Type Rodríguez

Affiliated tissues include lung, uterus and bone, and related phenotypes are microtia and malar flattening Disease Ontology : 12 An acrofacial dysostosis that is characterized [malacards.org]

flattening Microretrognathia Microtia Prominent nasal bridge Frequently present symptoms in 30-79% of the cases: Abnormality of cardiovascular system morphology Abnormality [dovemed.com]

Showing of 43 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Hand oligodactyly Hand has less than 5 fingers 0001180 Malar flattening [rarediseases.info.nih.gov]

Cerebro-Facio-Articular Syndrome

hypoplasia of the mid-face, surgically corrected left cleft lip, highly arched palate, prominent lower lip, prognathism, pectus carinatum, DIP camptodactyly of digits 2 [updoc.site]

Affiliated tissues include brain, kidney and bone, and related phenotypes are malar flattening and hypertelorism UniProtKB/Swiss-Prot : 76 Van Maldergem syndrome 1: An autosomal [malacards.org]

[…] and 5, brachydactyly of digits 1-2-5, hypoplasia of the distal phalanges of digits 1-2-5, broad thumbs, hypoplasia of fingernails 1-2-5 (Fig. 2), shortness of legs, short [updoc.site]

CK Syndrome

flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. [orpha.net]

Affiliated tissues include bone and eye, and related phenotypes are malar flattening and high palate UniProtKB/Swiss-Prot : 75 CK syndrome: A disorder characterized by mild [malacards.org]

[…] microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar [orpha.net]

Microcephalic Primordial Dwarfism Type Alazami

Affiliated tissues include eye, and related phenotypes are malar flattening and low-set ears [malacards.org]

flattening And 12 more phenotypes. [mendelian.co]

Frequent (33%) Frequent (79-30%) HP:0012471 8 low-set ears 58 30 Frequent (33%) Frequent (79-30%) HP:0000369 9 anxiety 58 30 Frequent (33%) Frequent (79-30%) HP:0000739 10 malar [malacards.org]

Zlotogora-Ogur Syndrome

flattening Syndactyly Midface retrusion And another 52 symptoms. [mendelian.co]

flattening Downslanted palpebral fissures Syndactyly Peripheral demyelination Micrognathia Postural tremor Hypertonia CNS hypomyelination Drooling Midface retrusion Alopecia [mendelian.co]

flattening Downslanted palpebral fissures Abnormality of male external genitalia Ablepharon Mild hearing impairment Frontal hirsutism Scrotal hypoplasia Abnormality of the [mendelian.co]

Loeys-Dietz Syndrome Type 2

Malar flattening MedGen UID: 347616 •Concept ID: C1858085 • Anatomical Abnormality Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), [ncbi.nlm.nih.gov]

flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Patent ductus arteriosus 0001643 Pectus carinatum Pigeon [rarediseases.info.nih.gov]

Panel A shows typical facial characteristics of patients with Loeys–Dietz syndrome type I at different ages: blue sclerae, hypertelorism, proptosis, malar flattening, retrognathia [nejm.org]

Urioste Martinez-Frias Syndrome

Other clinical features may include hypoproteinemia, inguinal hernia, low set ears, lymphedema, downslanted palpebral fissures, malar flattening, zygomatic flattening, micrognathia [xpertdox.com]

Malar flattening MedGen UID: 347616 • Concept ID: C1858085 • Anatomical Abnormality Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), [ncbi.nlm.nih.gov]

Loeys-Dietz Syndrome Type 1

flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Oral cleft Cleft of the mouth 0000202 Scoliosis Abnormal [rarediseases.info.nih.gov]

Panel A shows typical facial characteristics of patients with Loeys–Dietz syndrome type I at different ages: blue sclerae, hypertelorism, proptosis, malar flattening, retrognathia [rjmatthewsmd.com]

[…] bluish-gray color 0000592 Camptodactyly of finger Permanent flexion of the finger 0100490 Craniosynostosis 0001363 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Malar [rarediseases.info.nih.gov]

Raine Syndrome

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]

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]

face hypoplasia. [slideplayer.com]