Frontal bossing, and Scarring

Diseases related with Frontal bossing and Scarring

In the following list you will find some of the most common rare diseases related to Frontal bossing and Scarring that can help you solving undiagnosed cases.

Top matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

Other less relevant matches:

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Top 5 symptoms//phenotypes associated to Frontal bossing and Scarring

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Scarring. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Midface retrusion

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Downslanted palpebral fissures Macrocephaly Skeletal dysplasia Epicanthus Hypertelorism Hydrocephalus Abnormal facial shape Brachydactyly Micrognathia Upslanted palpebral fissure Intellectual disability Short neck Hearing impairment High palate Abnormality of the skeletal system Generalized hypotonia Nystagmus Rhizomelia Wide nasal bridge Sparse hair Downturned corners of mouth Posteriorly rotated ears Umbilical hernia Clinodactyly of the 5th finger Eczema Prominent forehead Cataract Talipes equinovarus Blue sclerae Recurrent urinary tract infections Talipes Pain Mitral valve prolapse Inguinal hernia Oral cleft Joint dislocation

Rare Symptoms - Less than 30% cases

Cone-shaped epiphysis Hydronephrosis Neoplasm Obesity Ventriculomegaly Kyphoscoliosis Polydactyly Abnormality of the nervous system Anemia Flat face Depressivity Thin upper lip vermilion Atrophic scars Flexion contracture Ptosis Sensorineural hearing impairment Limb undergrowth Narrow forehead Sparse scalp hair Recurrent otitis media Otitis media Asthma Short phalanx of finger Hyperkeratosis Pneumonia Alopecia Communicating hydrocephalus Short nose Postaxial polydactyly Hemivertebrae Short chin Thin vermilion border Wide mouth Anteverted nares Short toe Short palm Scaphocephaly Wide nose Short femoral neck Small hand Delayed eruption of teeth Macroglossia Joint hyperflexibility Osteoarthritis Bifid uvula Cleft lip Abnormal vertebral morphology Craniosynostosis Pes planus Retrognathia Proptosis Clinodactyly Dilatation Conductive hearing impairment Wide anterior fontanel Seizures Microcephaly Abnormality of pelvic girdle bone morphology Cognitive impairment Sleep disturbance Sparse and thin eyebrow Exotropia Aplasia of the middle phalanx of the hand Myopia Hyperextensible skin Arthralgia Disproportionate tall stature Visual loss Hallux valgus Glaucoma Joint laxity Camptodactyly Low-set ears Pectus carinatum Arachnodactyly Hyperlordosis Joint hypermobility Bruising susceptibility Hypertension Lumbar hyperlordosis Mitral regurgitation Soft skin Abnormality of the dentition Dental crowding Aplasia/Hypoplasia of the skin Brachycephaly Long philtrum Broad nasal tip Thick vermilion border Motor delay Bilateral talipes equinovarus Spondylolisthesis Highly arched eyebrow Short long bone Sleep apnea Infantile muscular hypotonia Epiphyseal dysplasia Disproportionate short-limb short stature Tinnitus Nephronophthisis Genu varum Back pain Chronic otitis media Spondyloepiphyseal dysplasia Tibial bowing Flared metaphysis Short thorax Short ribs Cutis laxa Generalized joint laxity Osteopetrosis Megalencephaly Widely spaced teeth Spinal cord compression Trigonocephaly Obstructive sleep apnea Bowel incontinence Abnormality of the elbow Spinal canal stenosis Hip contracture Neuroblastoma Disproportionate short stature Myeloid leukemia Paraparesis Limited elbow extension Acanthosis nigricans Overweight Clonus Delayed speech and language development Rigidity Gastroesophageal reflux Weight loss Pyelonephritis Severe short stature Accessory oral frenulum Hyperreflexia Frontal upsweep of hair Pancreatic cysts Growth delay Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short proximal phalanx of finger Short hard palate Duplication of the distal phalanx of hand Broad toe Hypoplasia of the capital femoral epiphysis Apnea Abnormal retinal morphology Overgrowth Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Tetraparesis Epidermal acanthosis Acute kidney injury Prominent metopic ridge Lymphoma Leukemia Upper airway obstruction Recurrent lower respiratory tract infections Confusion Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Cholangitis Micromelia Congenital hepatic fibrosis Hepatic fibrosis Microdontia Renal dysplasia Toe syndactyly Congenital diaphragmatic hernia Visual impairment Hepatomegaly Wide intermamillary distance Underdeveloped nasal alae Short metacarpal Round face Short foot Respiratory insufficiency Broad-based gait Hypoplasia of the corpus callosum Finger syndactyly Attention deficit hyperactivity disorder Renal duplication Autistic behavior Feeding difficulties in infancy Renal insufficiency Rod-cone dystrophy Aggressive behavior Ataxia Stereotypy Coarse facial features Self-injurious behavior Supernumerary nipple Mild short stature Low hanging columella Renal neoplasm Obsessive-compulsive behavior Broad face Subvalvular aortic stenosis Broad columella Nephroblastoma Self-biting Abnormal aortic morphology Pyloric stenosis Short metatarsal Laryngomalacia Narrow palpebral fissure Multicystic kidney dysplasia Bilateral single transverse palmar creases Aortic valve stenosis Pain insensitivity Deeply set eye Autism Dysuria Chronic myelogenous leukemia Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Thoracolumbar kyphosis Brain stem compression Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Tracheomalacia Abnormality of femur morphology Cholestasis Central apnea Childhood onset short-limb short stature Limited hip extension Hyperactivity Stage 5 chronic kidney disease High forehead Low-set, posteriorly rotated ears Hyporeflexia Arrhythmia Abnormality of cardiovascular system morphology Behavioral abnormality Abnormality of the kidney Feeding difficulties Smooth philtrum Retinal degeneration Trident hand Abnormality of skin pigmentation Short distal phalanx of finger Muscular hypotonia Retinal dystrophy Nephropathy Renal cyst Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Blepharophimosis Ascending tubular aorta aneurysm Triangular mouth Mandibular prognathia Cutaneous photosensitivity Palmoplantar keratoderma Neutropenia Carious teeth Nail dystrophy Cough Skin rash Respiratory tract infection Respiratory failure Conjunctivitis Recurrent respiratory infections Splenomegaly Decreased corneal thickness Molluscoid pseudotumors Keratoglobus Palmoplantar cutis laxa Talipes valgus Red hair Hyperextensibility of the finger joints Recurrent pneumonia Myelodysplasia Buphthalmos Polyhydramnios Hip dysplasia Esotropia Microcornea Ichthyosis Erythema Abnormality of the pinna Postnatal growth retardation Intellectual disability, moderate Microphthalmia Increased antibody level in blood Kyphosis Edema Optic atrophy Failure to thrive Subungual hyperkeratosis Poikiloderma Osteosarcoma Blepharitis Wheezing Dentinogenesis imperfecta Atypical scarring of skin Abnormality of epiphysis morphology Patent foramen ovale Depressed nasal ridge Bulbous nose Anal atresia Short philtrum Strabismus Hypoplasia of the musculature Facial hypotonia Fragile skin Adducted thumb Hypopigmented skin patches Delayed gross motor development Generalized muscle weakness Protruding ear Telecanthus Myalgia Narrow mouth Cerebral atrophy Myopathy Muscle weakness Horizontal nystagmus Redundant skin Megalocornea Distichiasis Keratoconus Increased susceptibility to fractures Reduced bone mineral density Congenital hip dislocation High myopia Retinal detachment Congenital horizontal nystagmus Sparse lower eyelashes Abnormality of the sacroiliac joint Dimple chin Multiple cafe-au-lait spots Abnormality of the upper urinary tract Lacrimation abnormality Periorbital fullness Abnormal hair pattern Sparse lateral eyebrow Absent eyelashes Abnormal eyelash morphology Aplasia cutis congenita Prematurely aged appearance Dandy-Walker malformation Abnormality of the fingernails Clitoral hypoplasia Pulmonary artery aneurysm Hypogonadism Delayed skeletal maturation Pectus excavatum Cryptorchidism Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Multiple suture craniosynostosis Hypodontia Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Dermal translucency Long toe Micropenis Vesicoureteral reflux High anterior hairline Increased number of teeth Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Misalignment of teeth Hypoplastic labia majora Capillary hemangioma Nevus flammeus Shawl scrotum Hypoplastic nipples Long palpebral fissure Dental malocclusion Mesomelia Radial deviation of finger Hemangioma Narrow palate Hypergonadotropic hypogonadism Gingival overgrowth Long eyelashes Broad thumb Nail dysplasia Sagittal craniosynostosis Narrow nose Sparse eyelashes Dry hair Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Hemiatrophy Scarring alopecia of scalp Butterfly vertebrae Abnormality of hair texture Concave nasal ridge Elevated 8-dehydrocholesterol Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Erythroderma Abnormality of the thorax Scaling skin Coarse hair Punctate vertebral calcifications Elevated 8(9)-cholestenol Dilatation of the cerebral artery Finger clinodactyly Rhinitis Aortic root aneurysm Abnormality of the sternum Myopathic facies Aortic aneurysm Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Microretrognathia Joint contracture of the hand Tarsal stippling Postaxial hand polydactyly Facial asymmetry Dolichocephaly Broad forehead Patent ductus arteriosus Hypospadias Atrial septal defect Cleft palate Stippled calcification in carpal bones Absence of renal corticomedullary differentiation


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