Frontal bossing, and Thick vermilion border

Diseases related with Frontal bossing and Thick vermilion border

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


Top matches:

High match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as ectodermal dysplasia, hypohidrotic;hed, ectodermal dysplasia, anhidrotic;eda

Related symptoms:

  • Autosomal recessive inheritance
  • Depressed nasal bridge
  • Nevus
  • Frontal bossing
  • Fever


SOURCES: MONDO UMLS OMIM

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

High match THREE M SYNDROME 2; 3M2

THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Short neck
  • Frontal bossing


SOURCES: UMLS MONDO MESH OMIM

More info about THREE M SYNDROME 2; 3M2

High match JOUBERT SYNDROME 10; JBTS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Growth delay


SOURCES: UMLS DOID MESH OMIM MONDO

More info about JOUBERT SYNDROME 10; JBTS10

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Other less relevant matches:

High match MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB Is also known as ;combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b; mocod type b

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH UMLS DOID MONDO ORPHANET OMIM

More info about MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB

High match MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of;combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a; mocod type a

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO ORPHANET DOID MESH OMIM

More info about MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA

High match HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hyper-ige syndrome, autosomal dominant, hies, autosomal dominant, job syndrome;ad-hies; autosomal dominant hies; autosomal dominant hyperimmunoglobulin e syndrome; buckley syndrome; hyperimmunoglobulin e syndrome type 1; hyperimmunoglobulin e-recurrent infection syndrome; job syndrome; stat3 deficiency

Related symptoms:

  • Autosomal dominant inheritance
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • High palate


SOURCES: OMIM ICD10 ORPHANET

More info about HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 Is also known as mental retardation, x-linked, syndromic, mircsof-langouet type;mrxsml;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: UMLS DOID OMIM MONDO ORPHANET

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34

High match ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED Is also known as ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked;ectd1, xlhed, ectodermal dysplasia, anhidrotic, x-linked;eda, eda1, ectodermal dysplasia, hypohidrotic, 1;hed1, ectodermal dysplasia 1;ed1, christ-siemens-touraine syndrome, cst syndrome;aec syndrome; hay-wells syndrome

Related symptoms:

  • Intellectual disability
  • Pica
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET

More info about ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED

High match SIALIDOSIS TYPE 1

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome; lipomucopolysaccharidosis; normomorphic sialidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET

More info about SIALIDOSIS TYPE 1

High match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Top 5 symptoms//phenotypes associated to Frontal bossing and Thick vermilion border

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Frontal bossing and Thick vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Wide nasal bridge Macrocephaly Short nose X-linked recessive inheritance Long face Recurrent respiratory infections Oxycephaly EEG abnormality Growth delay Hypoplasia of the corpus callosum Nystagmus Hypertelorism Generalized hypotonia Pica Scoliosis Cleft palate Long philtrum Depressed nasal bridge Nevus Fever

Rare Symptoms - Less than 30% cases


Full cheeks Micrognathia Tetraparesis Spastic tetraplegia Ataxia Peripheral demyelination Strabismus Cryptorchidism Ventricular septal defect Coarse facial features Gliosis Respiratory tract infection Tremor Kyphosis Progressive Gastroesophageal reflux Cerebral atrophy Widely spaced teeth Delayed puberty Ventriculomegaly Conductive hearing impairment Underdeveloped nasal alae Dystrophic fingernails Deeply set eye Delayed eruption of teeth Abnormality of the dentition Tics Eczema Prominent nose Autosomal dominant inheritance Delayed skeletal maturation Thick lower lip vermilion Hernia Abnormal facial shape Prominent forehead Molybdenum cofactor deficiency Increased urinary hypoxanthine Xanthinuria Increased urinary taurine Hypouricemia Myoclonic spasms Axonal loss Opisthotonus Ectopia lentis Spastic tetraparesis Microcephaly Xanthine nephrolithiasis Anodontia Short stature Thin skin Hypotrichosis Hyperlordosis Protruding ear Midface retrusion Malar flattening Sparse and thin eyebrow Hypohidrosis Sparse eyelashes Periorbital hyperpigmentation Microdontia Periorbital wrinkles Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Hidrotic ectodermal dysplasia Heat intolerance Absent eyebrow Anhidrosis Agenesis of permanent teeth Ectodermal dysplasia Anteverted nares Feeding difficulties in infancy Heterogeneous Hyperhidrosis Hyperkeratosis Recurrent infections Downslanted palpebral fissures Hypodontia Sparse hair Everted lower lip vermilion Hallux valgus Supernumerary nipple Thickened calvaria Prominent supraorbital ridges Relative macrocephaly Short chin Subglottic stenosis Poor suck Perseveration Patent foramen ovale Non-midline cleft lip Generalized hyperpigmentation Brittle hair Hypoplastic nipples Taurodontia Soft skin Nasal speech Dental crowding Rhinitis Dystrophic toenail Submucous cleft hard palate Dysphonia Mild global developmental delay Conical tooth Increased head circumference Deviated nasal septum Speech apraxia Left ventricular noncompaction Intellectual disability, severe Slender build Respiratory distress Clinodactyly of the 5th finger Immunodeficiency Right ventricular hypertrophy Abnormality of the voice Ankylosis Finger syndactyly Dry skin Hypoplasia of the maxilla Palmoplantar keratoderma Tracheobronchomalacia Sparse scalp hair Abnormality of dental enamel Hoarse voice Coarse hair Bronchomalacia Umbilical hernia Concave nail Sandal gap Cherry red spot of the macula Intention tremor Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Increased urinary O-linked sialopeptides Urinary excretion of sialylated oligosaccharides Hearing impairment Tracheomalacia Cortical gyral simplification Emphysema Short middle phalanx of finger Laryngomalacia Microretrognathia Dysostosis multiplex Short phalanx of finger Failure to thrive Depressed nasal ridge Delayed speech and language development Lumbar hyperlordosis Growth hormone deficiency Hip dysplasia Delayed myelination Single transverse palmar crease Small for gestational age Microtia Intrauterine growth retardation Posteriorly rotated ears Vascular skin abnormality Slurred speech Hyperconvex nail Visual impairment Absent nipple Ankyloblepharon Abnormal oral mucosa morphology Hyperconvex fingernails Absent lacrimal punctum Submucous cleft soft palate Severe short stature Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Sensorineural hearing impairment Muscular hypotonia Cataract Muscle weakness Skeletal muscle atrophy Short thorax Splenomegaly Gait disturbance Entropion Myoclonus Skeletal dysplasia Retinopathy Neurological speech impairment Pectus carinatum Corneal opacity Abnormality of movement Abnormal form of the vertebral bodies Progressive visual loss Aminoaciduria Decreased nerve conduction velocity Open mouth Urticaria Abnormal cerebellum morphology Abnormal muscle tone Cardiorespiratory arrest Respiratory arrest Hyperreflexia Hydrocephalus Hypertonia Brain atrophy Neuronal loss in central nervous system Progressive microcephaly Poor head control Hemiplegia Obsessive-compulsive behavior Lens luxation Reduced xanthine dehydrogenase activity Irritability Decreased urinary sulfate Sulfite oxidase deficiency Increased urinary sulfite Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Aldehyde oxidase deficiency High palate Infantile onset Dysphagia Pneumonia Dilatation Diffuse cerebral atrophy Encephalopathy Osteoporosis Epicanthus Oligodontia Palmoplantar hyperkeratosis Plantar hyperkeratosis Short neck Dolichocephaly Triangular face Pointed chin Scapular winging Slender long bone Prominent nasal tip Prominent calcaneus Low-set ears Rod-cone dystrophy Infra-orbital crease Absent speech Polydactyly Polymicrogyria Hirsutism Postaxial polydactyly Cerebellar vermis hypoplasia Encephalocele Intellectual disability, profound Deep philtrum Cephalocele Molar tooth sign on MRI Enlarged cisterna magna Constipation Erythema High, narrow palate Cerebellar hypoplasia Increased IgE level Recurrent fungal infections Persistence of primary teeth Eczematoid dermatitis Paronychia Cutaneous abscess Recurrent Staphylococcus aureus infections Generalized abnormality of skin Lung abscess Impaired neutrophil chemotaxis Myopia Patent ductus arteriosus Upslanted palpebral fissure Hemihypertrophy Narrow mouth Autism Pes planus Kyphoscoliosis Muscular hypotonia of the trunk Joint laxity Aggressive behavior Neonatal hypotonia Wide mouth Short philtrum Clonus Abnormal cardiac septum morphology Red hair Recurrent sinopulmonary infections Mandibular prognathia Recurrent pneumonia Osteopenia Craniosynostosis Skin rash Joint hyperflexibility Pruritus Facial asymmetry Papule Cough Joint hypermobility Wide nose Recurrent fractures Lymphoma Abnormality of the hair Chronic mucocutaneous candidiasis Abnormality of the face Skin ulcer Skin vesicle Recurrent bacterial infections Recurrent skin infections Eosinophilia Cellulitis Chronic otitis media Osteomyelitis Bronchitis Gingivitis Recurrent bronchitis Atelectasis Nasogastric tube feeding



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Frontal bossing and Amenorrhea, related diseases and genetic alterations