Undiagnosed 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 to solve undiagnosed cases. Browse more diseases related to these clinical features.

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: OMIM MONDO UMLS

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

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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 MESH MONDO OMIM

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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: MONDO OMIM UMLS MESH DOID

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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 ;

Related symptoms:

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


SOURCES: UMLS DOID OMIM ORPHANET MONDO MESH

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

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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;

Related symptoms:

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


SOURCES: DOID MONDO ORPHANET OMIM MESH UMLS

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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;2000 iu/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

Related symptoms:

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


SOURCES: ICD10 OMIM ORPHANET

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

X-linked syndromic mental retardation-34 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).

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

Related symptoms:

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


SOURCES: OMIM ORPHANET DOID MONDO UMLS

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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;ankyloblepharon-ectodermal defects-cleft lip/palate (aec) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (afa), ectodermal abnormalities and a cleft lip and/or palate.

Related symptoms:

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


SOURCES: ORPHANET OMIM

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High match SIALIDOSIS TYPE 1

Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Normomorphic sialidosis

SIALIDOSIS TYPE 1 Is also known as 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.

Related symptoms:

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


SOURCES: ORPHANET

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High match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

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


SOURCES: OMIM MONDO UMLS

More info about MEIER-GORLIN SYNDROME 6; MGORS6

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

Symptoms // Phenotype % Cases
Intellectual disability 50%
Seizures 50%
Global developmental delay 50%
Feeding difficulties 50%
Autosomal recessive inheritance 40%
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Other less frequent symptoms

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

40% Motor delay 40% Macrocephaly 40% Wide nasal bridge 40% Short nose 30% EEG abnormality 30% Long philtrum 30% Generalized hypotonia 30% Pica 30% Nevus 30% Fever 30% Scoliosis 30% Cleft palate 30% Hypertelorism 30% Growth delay 30% Recurrent respiratory infections 30% Nystagmus 30% Long face 30% Depressed nasal bridge 30% Hypoplasia of the corpus callosum 30% X-linked recessive inheritance 30% Oxycephaly 20% Progressive 20% Opisthotonus 20% Ectopia lentis 20% Cerebral atrophy 20% Spastic tetraparesis 20% Spastic tetraplegia 20% Tetraparesis 20% Peripheral demyelination 20% Gliosis 20% Hypouricemia 20% Full cheeks 20% Ventriculomegaly 20% Axonal loss 20% Abnormal facial shape 20% Myoclonic spasms 20% Thick lower lip vermilion 20% Widely spaced teeth 20% Gastroesophageal reflux 20% Kyphosis 20% Tremor 20% Ventricular septal defect 20% Cryptorchidism 20% Strabismus 20% Ataxia 20% Micrognathia 20% Conductive hearing impairment 20% Respiratory tract infection 20% Underdeveloped nasal alae 20% Dystrophic fingernails 20% Prominent nose 20% Increased urinary taurine 20% Eczema 20% Delayed eruption of teeth 20% Coarse facial features 20% Prominent forehead 20% Abnormality of the dentition 20% Tics 20% Autosomal dominant inheritance 20% Delayed skeletal maturation 20% Hernia 20% Deeply set eye 20% Molybdenum cofactor deficiency 20% Increased urinary hypoxanthine 20% Xanthinuria 20% Microcephaly 20% Xanthine nephrolithiasis 20% Delayed puberty 20% Anhidrosis 20% Midface retrusion 20% Malar flattening 20% Anteverted nares 20% Short stature 20% Periorbital hyperpigmentation 20% Periorbital wrinkles 20% Anhidrotic ectodermal dysplasia 20% Hypohidrotic ectodermal dysplasia 20% Everted upper lip vermilion 20% Hidrotic ectodermal dysplasia 20% Heat intolerance 20% Agenesis of permanent teeth 20% Absent eyebrow 20% Hyperlordosis 20% Sparse eyelashes 20% Hypohidrosis 20% Sparse and thin eyebrow 20% Hypotrichosis 20% Thin skin 20% Ectodermal dysplasia 20% Microdontia 20% Hypodontia 20% Everted lower lip vermilion 20% Sparse hair 20% Hyperhidrosis 20% Hyperkeratosis 20% Heterogeneous 20% Protruding ear 20% Anodontia 20% Feeding difficulties in infancy 20% Recurrent infections 20% Downslanted palpebral fissures 10% Patellar aplasia 10% Abnormality of dental enamel 10% Immunodeficiency 10% Depressed nasal ridge 10% Finger syndactyly 10% Dry skin 10% Palmoplantar keratoderma 10% Hypoplasia of the maxilla 10% Delayed speech and language development 10% Short phalanx of finger 10% Sparse scalp hair 10% Hoarse voice 10% Respiratory distress 10% Coarse hair 10% Dysphonia 10% Abnormality of the voice 10% Brittle hair 10% Prominent supraorbital ridges 10% Short chin 10% Tracheobronchomalacia 10% Non-midline cleft lip 10% Supernumerary nipple 10% Generalized hyperpigmentation 10% Submucous cleft hard palate 10% Clinodactyly of the 5th finger 10% Intellectual disability, severe 10% Taurodontia 10% Ankylosis 10% Open mouth 10% Dental crowding 10% Nasal speech 10% Severe short stature 10% Patent foramen ovale 10% Poor suck 10% Relative macrocephaly 10% Hallux valgus 10% Thickened calvaria 10% Mild global developmental delay 10% Posteriorly rotated ears 10% Right ventricular hypertrophy 10% Lumbar hyperlordosis 10% Slender build 10% Left ventricular noncompaction 10% Speech apraxia 10% Intrauterine growth retardation 10% Small for gestational age 10% Single transverse palmar crease 10% Perseveration 10% Delayed myelination 10% Hip dysplasia 10% Growth hormone deficiency 10% Increased head circumference 10% Deviated nasal septum 10% Hypoplastic nipples 10% Subglottic stenosis 10% Soft skin 10% Progressive visual loss 10% Gait disturbance 10% Tracheomalacia 10% Stenosis of the external auditory canal 10% Myoclonus 10% Skeletal dysplasia 10% Retinopathy 10% Neurological speech impairment 10% Pectus carinatum 10% Corneal opacity 10% Abnormality of movement 10% Abnormal form of the vertebral bodies 10% Aminoaciduria 10% Emphysema 10% Decreased nerve conduction velocity 10% Short thorax 10% Slurred speech 10% Entropion 10% Dysostosis multiplex 10% Vascular skin abnormality 10% Cherry red spot of the macula 10% Hearing impairment 10% Intention tremor 10% Urinary excretion of sialylated oligosaccharides 10% Increased urinary O-linked sialopeptides 10% Cortical gyral simplification 10% Short middle phalanx of finger 10% Hypoplastic labia majora 10% Absent lacrimal punctum 10% Failure to thrive 10% Microretrognathia 10% Rhinitis 10% Dystrophic toenail 10% Conical tooth 10% Concave nail 10% Hyperconvex nail 10% Absent nipple 10% Ankyloblepharon 10% Abnormal oral mucosa morphology 10% Hyperconvex fingernails 10% Submucous cleft soft palate 10% Splenomegaly 10% Bronchomalacia 10% Umbilical hernia 10% Aplasia/Hypoplastia of the eccrine sweat glands 10% Hypoplastic-absent sebaceous glands 10% Sensorineural hearing impairment 10% Muscular hypotonia 10% Cataract 10% Muscle weakness 10% Sandal gap 10% Visual impairment 10% Skeletal muscle atrophy 10% Laryngomalacia 10% Microtia 10% Urticaria 10% Abnormal cerebellum morphology 10% Abnormal muscle tone 10% Cardiorespiratory arrest 10% Respiratory arrest 10% Hyperreflexia 10% Hydrocephalus 10% Hypertonia 10% Brain atrophy 10% Neuronal loss in central nervous system 10% Progressive microcephaly 10% Poor head control 10% Hemiplegia 10% Obsessive-compulsive behavior 10% Lens luxation 10% Reduced xanthine dehydrogenase activity 10% Irritability 10% Decreased urinary sulfate 10% Sulfite oxidase deficiency 10% Increased urinary sulfite 10% Absent urinary urothione 10% Decreased urinary urate 10% Increased urinary thiosulfate 10% Aldehyde oxidase deficiency 10% High palate 10% Infantile onset 10% Dysphagia 10% Pneumonia 10% Dilatation 10% Diffuse cerebral atrophy 10% Encephalopathy 10% Osteoporosis 10% Epicanthus 10% Oligodontia 10% Palmoplantar hyperkeratosis 10% Plantar hyperkeratosis 10% Short neck 10% Dolichocephaly 10% Triangular face 10% Pointed chin 10% Scapular winging 10% Slender long bone 10% Prominent nasal tip 10% Prominent calcaneus 10% Low-set ears 10% Rod-cone dystrophy 10% Infra-orbital crease 10% Absent speech 10% Polydactyly 10% Polymicrogyria 10% Hirsutism 10% Postaxial polydactyly 10% Cerebellar vermis hypoplasia 10% Encephalocele 10% Intellectual disability, profound 10% Deep philtrum 10% Cephalocele 10% Molar tooth sign on MRI 10% Enlarged cisterna magna 10% Constipation 10% Erythema 10% High, narrow palate 10% Cerebellar hypoplasia 10% Increased IgE level 10% Persistence of primary teeth 10% Recurrent fungal infections 10% Eczematoid dermatitis 10% Paronychia 10% Cutaneous abscess 10% Recurrent Staphylococcus aureus infections 10% Generalized abnormality of skin 10% Lung abscess 10% Impaired neutrophil chemotaxis 10% Myopia 10% Patent ductus arteriosus 10% Upslanted palpebral fissure 10% Hemihypertrophy 10% Narrow mouth 10% Autism 10% Pes planus 10% Kyphoscoliosis 10% Muscular hypotonia of the trunk 10% Joint laxity 10% Aggressive behavior 10% Neonatal hypotonia 10% Wide mouth 10% Clonus 10% Short philtrum 10% Abnormal cardiac septum morphology 10% Red hair 10% Recurrent sinopulmonary infections 10% Mandibular prognathia 10% Recurrent pneumonia 10% Osteopenia 10% Craniosynostosis 10% Skin rash 10% Joint hyperflexibility 10% Pruritus 10% Facial asymmetry 10% Papule 10% Cough 10% Joint hypermobility 10% Wide nose 10% Recurrent fractures 10% Lymphoma 10% Abnormality of the face 10% Atelectasis 10% Abnormality of the hair 10% Skin ulcer 10% Skin vesicle 10% Recurrent bacterial infections 10% Recurrent skin infections 10% Eosinophilia 10% Cellulitis 10% Chronic otitis media 10% Osteomyelitis 10% Bronchitis 10% Gingivitis 10% Recurrent bronchitis 10% Chronic mucocutaneous candidiasis 10% Nasogastric tube feeding



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Other signs and symptoms that you may find interesting

Frontal bossing and Amenorrhea, related diseases and genetic alterations