Coarse Facial Features: Causes & Reasons

Possible Causes for Coarse Facial Features

facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level. [ncbi.nlm.nih.gov]

He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal. [ncbi.nlm.nih.gov]

The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). [secure.ssa.gov]

There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms [rare2aware.com]

Signs & Symptoms Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarse” facial features, and abnormalities of [rarediseases.org]

Primary Hypertrophic Osteoarthropathy

The disease is characterized by coarse facial features, clubbing of the fingers and radiographic periostitis of the distal long bones. [ncbi.nlm.nih.gov]

Idiopathic hypertrophic osteoarthropathy is a rare syndrome, characterized by clubbing, progressive enlargement of the joints, coarse facial features suggesting acromegaly [ncbi.nlm.nih.gov]

facial features suggesting acromegaly, palmoplantar hyperhidrosis, fibrous covering at the ends of long bones (periostosis), and acro-osteolysis. [doi.org]

Mucopolysaccharidosis Type 1

Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly. [symptoma.com]

facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I. [mps1disease.com]

Coarse facial features are more pronounced than in MPS-IS patients and may be accompanied by facial and body hypertrichosis. [symptoma.com]

Mucopolysaccharidosis Type 6

The diagnosis of the attenuated form is often delayed given subtle facial features rather than the typical coarse facial features of the classic form. [mayoclinic.pure.elsevier.com]

Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay. [radiopaedia.org]

facial features. [emedicine.medscape.com]

Mucopolysaccharidosis Type 1 H

Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase. [medgen.genetics.utah.edu]

facial features with low nasal bridge Signs and tests [ edit ] Genetic testing for the alpha-L-iduronidase (IDUA) gene Urine tests for extra mucopolysaccharides X-ray of [en.wikibooks.org]

Hunter), who present primarily with coarse facial features, joint contractures and skeletal deformities excrete a different type of HS with lower sulfation. [onlinelibrary.wiley.com]

Mucopolysaccharidosis Type 4

Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII. [genedx.com]

Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver [ldnz.org.nz]

" facial features, such as a bulging forehead Cloudy vision Heart valve issues and heart murmur Enlarged liver Over time, MPS IV may cause serious complications, including [everydayhealth.com]

Fucosidosis

facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. [orpha.net]

Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features [ncbi.nlm.nih.gov]

At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features. [ncbi.nlm.nih.gov]

Costello Syndrome

Despite facial features that appear less coarse than those typically seen in Costello patients, both patients show many of the physical and developmental problems characteristic [ncbi.nlm.nih.gov]

Abstract Costello syndrome (CS) is a rare multiple congenital disorder caused by activating germline mutations in HRAS gene and is characterized by coarse facial features, [ncbi.nlm.nih.gov]

13 June 2017 Costello syndrome (CS) is a rare multiple congenital disorder caused by activating germline mutations in HRAS gene and is characterised by coarse facial features [institut-myologie.org]

Mucopolysaccharidosis Type 7

Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea [ldnz.org.nz]

[…] developmental delay, autistic features, sleep disturbances and mildly coarse facial features. [invitae.com]

On physical examination, she appeared short statured (stunted growth) with lumbar kyphosis and presented coarse facial features [Figure 1]. [contempclindent.org]

Acromegaly

This leads to coarse facial features, soft tissue swelling (including the tongue), enlargement of the hands and feet, respiratory problems, hypertension, diabetes mellitus [ncbi.nlm.nih.gov]

A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet. [ncbi.nlm.nih.gov]

Coarse facial features are evident, including prognathism and prominence of the malar eminences and supraorbital ridges. By permission of the publisher. [msdmanuals.com]

Atkin Syndrome

Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. [ncbi.nlm.nih.gov]

Symptoms - Atkin syndrome Abnormality of the teeth Anteverted nares Coarse facial features Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent [checkorphan.org]

Abnormality of head or neck Anteverted nares Broad nasal tip Coarse facial features Downslanted palpebral fissures Exaggerated median tongue furrow Heavy supraorbital ridges [ncbi.nlm.nih.gov]

Hyper-IgE Syndrome

Patients have coarse facial features, delayed shedding of baby teeth, osteopenia, and recurrent fractures. [merckmanuals.com]

Hypertrichotic Osteochondrodysplasia

[…] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly [familydiagnosis.com]

distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart (increased ventricular mass, enlarged chambers [ncbi.nlm.nih.gov]

Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips [diseaseinfosearch.org]

Aspartylglucosaminuria

facial features, and skeletal abnormalities become evident by adolescence. [medical-dictionary.thefreedictionary.com]

Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. [uniprot.org]

facial features, and skeletal abnormalities that become evident by adolescence. [medical-dictionary.thefreedictionary.com]

Alpha-Mannosidosis

Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly. [ncbi.nlm.nih.gov]

facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex). [ncbi.nlm.nih.gov]

The typical signs consist of hearing impairment, intellectual disabilities, coarse facial features and motor function disturbances. [ncbi.nlm.nih.gov]

Coffin-Lowry Syndrome

Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers [medical-dictionary.thefreedictionary.com]

Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. [uniprot.org]

Coffin-Siris syndrome [CSS OMIM #135900] is characterized by developmental delay, coarse facial features, speech impairment, hypertrichosis, hypoplastic or absent fifth fingernails [dnatesting.uchicago.edu]

Frontometaphyseal Dysplasia

facial features Coat hanger sign of ribs Cor pulmonale Coxa valga Delayed eruption of teeth Dental malocclusion Elbow flexion contracture Genu valgum Hirsutism Hydroureter [dovemed.com]

facial features Coarse facial appearance 0000280 Coat hanger sign of ribs 0006665 Cor pulmonale 0001648 Coxa valga 0002673 Delayed eruption of teeth Delayed eruption Delayed [rarediseases.info.nih.gov]

Frontometaphyseal Dysplasia may include: Ankle contracture Antegonial notching of mandible Anteriorly placed odontoid process Arachnodactyly Broad phalanges of the hand Coarse [dovemed.com]

Dyggve-Melchior-Clausen Syndrome

Our male patients had microcephaly and coarse facial features while the female patient did not represent microcephaly or abnormal facies, which are significant features of [oparu.uni-ulm.de]

facial features 30 HP:0000280 4 mandibular prognathia 30 HP:0000303 5 thickened calvaria 30 HP:0002684 6 brachycephaly 30 HP:0000248 7 genu valgum 30 HP:0002857 8 disproportionate [malacards.org]

facial features Coarse facial appearance 0000280 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature [rarediseases.info.nih.gov]

Incontinentia Pigmenti Achromians

Other associated disorders occur inconsistently and include macrocephaly, microcephaly, h6mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal [cambridge.org]

facial features Coarse facial appearance 0000280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gray matter heterotopia 0002282 Hand polydactyly Extra finger 0001161 [rarediseases.info.nih.gov]

Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cerebral atrophy Degeneration of cerebrum 0002059 Clinodactyly Permanent curving of the finger 0030084 Coarse [rarediseases.info.nih.gov]

Spondyloepiphyseal Dysplasia Type Cantú

facial features Coarse facial appearance 0000280 Delayed epiphyseal ossification 0002663 Flexion contracture Flexed joint that cannot be straightened 0001371 High pitched [rarediseases.info.nih.gov]

[…] through HPO Anterior scalloping of vertebral bodies 0004580 Autosomal dominant inheritance 0000006 Carpal bone hypoplasia Small carpal bones Small carpals [ more ] 0001498 Coarse [rarediseases.info.nih.gov]

Kanzaki Disease

facial features Coarse facial appearance 0000280 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal [rarediseases.info.nih.gov]

facial features, mild intellectual impairment, lymphedema, Other sites list these additional symptoms: Peripheral nerve symptoms, Enlarged nose tip, Depressed nose bridge [lymphedemapeople.com]

Individuals with Schindler disease type II may also develop distinctive facial features including mildly coarse features, thick lips, a depressed nasal bridge and an enlarged [rarediseases.org]

Pitt-Hopkins Syndrome

In this article, we describe two sibs, a brother and sister, with severe mental retardation and multiple congenital anomalies including "coarse" facial features, short stature [ncbi.nlm.nih.gov]

Coarse facial features MedGen UID: 335284 •Concept ID: C1845847 • Finding Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded [ncbi.nlm.nih.gov]

coarse face, a broad nasal bridge and a wide mouth, and hyperventilation attacks. [ncbi.nlm.nih.gov]

Coffin-Siris Syndrome

She had coarse facial features, a broad nose, a thick lower lip, thick eyebrows, long eyelashes and small eyes. [jmedicalcasereports.biomedcentral.com]

Figure 4: Coarse facial features in Coffin- Siris Syndrome- bushy eyebrows, broad nasal bridge and bulbous nasal tip. [iamg.in]

[…] patients at birth), and coarse facial features (commonly observed over time). [orpha.net]

Spondyloepimetaphyseal Dysplasia Type Geneviève

Causes Several conditions are associated with coarse facial features. [liquisearch.com]

facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. [mendelian.co]

facial features Coarse facial appearance 0000280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flared metaphysis Flared wide portion of long bone 0003015 Flat [rarediseases.info.nih.gov]

Simpson-Golabi-Behmel Syndrome Type 2

[from OMIM] Show allHide all Abnormality of head or neck Anteverted nares Cleft palate Coarse facial features Deep philtrum Epicanthal fold High palate Short neck Short nose [ncbi.nlm.nih.gov]

Figure 1: The patient exhibited macrocephaly, macrostomia, and coarse facial features. [journals.lww.com]

Features of the disease in female carriers include tall stature and coarse facial features [1]. [sciencerepository.org]

Infantile Sialic Acid Storage Disease

They may have unusual facial features that are often described as ""coarse"", bone malformations, hepatosplenomegaly, and cardiomegaly. [babymed.com]

They may have coarse facial features, seizures, bone malformations, enlarged liver and spleen and an enlarged head. The abdomen may be swollen due to enlarged organs. [ldnz.org.nz]

They may have coarse facial features, seizures, bone malformations, hepatosplenomegaly and cardiomegaly. [egl-eurofins.com]

GM1 Gangliosidosis Type 1

facial features). [medresearch.in]

Physical examination revealed coarse facial features, hepatomegaly and pansystolic murmur. [indianpediatrics.net]

Signs and symptoms children with GM1 gangliosidosis may experience include: distinct facial features (coarse facial features) poor muscle tone (hypotonia) enlargement of the [childrenshospital.org]

1q41-q42 Microdeletion Syndrome

[from MedlinePlus Genetics] Show allHide all Abnormality of head or neck Anteverted nares Broad nasal tip Cleft palate Cleft upper lip Coarse facial features Deep philtrum [ncbi.nlm.nih.gov]

features Coarse facial features + + 15/23 18/22 Full cheeks as a child Large irises or rounded/short/slanting palpebral fissures – + (rounded) + + (rounded) 18/21 15/23 [mdpi.com]

However, the data in the Decipher database also suggested connections of common phenotypes in cleft palate, coarse facial features and intellectual disability with a deletion [hereditasjournal.biomedcentral.com]

Platyspondylic Lethal Skeletal Dysplasia Type Torrance

Abnormality of head or neck Coarse facial features Short neck Abnormality of limbs Flat acetabular roof Limb undergrowth Severe limb shortening Abnormality of the digestive [ncbi.nlm.nih.gov]

facial features Coarse facial appearance 0000280 Decreased cranial base ossification 0005451 Disc-like vertebral bodies 0004591 Flat acetabular roof 0003180 Hypoplastic ilia [rarediseases.info.nih.gov]

facial features, and variable behavioral anomalies. [mendelian.co]