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. Browse more diseases related to these clinical features.

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

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 Is also known as ectodermal dysplasia, hypohidrotic;hed, ectodermal dysplasia, anhidrotic;eda

Related symptoms:

  • Periorbital hyperpigmentation
  • Everted upper lip vermilion
  • Hypohidrotic ectodermal dysplasia
  • Periorbital wrinkles
  • Heat intolerance


SOURCES: OMIM

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High match THREE M SYNDROME 2

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

Related symptoms:

  • Prominent calcaneus
  • Prominent nasal tip
  • Slender long bone
  • Scapular winging
  • Pointed chin


SOURCES: OMIM

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High match JOUBERT SYNDROME 10

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:

  • Enlarged cisterna magna
  • Molar tooth sign on MRI
  • Postaxial polydactyly
  • Deep philtrum
  • Cerebellar vermis hypoplasia


SOURCES: OMIM

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High match MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA

Related symptoms:

  • Broad lateral eyebrow
  • Mixed hearing impairment
  • Overfolded helix
  • Thick lower lip vermilion
  • Specific learning disability


SOURCES: OMIM

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High match CLARK-BARAITSER SYNDROME

CLARK-BARAITSER SYNDROME Is also known as baraitser syndrome

Related symptoms:

  • Heavy supraorbital ridges
  • Maxillary lateral incisor microdontia
  • Exaggerated median tongue furrow
  • Prominent median palatal raphe
  • Widely-spaced maxillary central incisors


SOURCES: OMIM

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High match ATKIN-FLAITZ SYNDROME

ATKIN-FLAITZ SYNDROME Is also known as atkin syndrome;

Related symptoms:

  • Heavy supraorbital ridges
  • Maxillary lateral incisor microdontia
  • Exaggerated median tongue furrow
  • Prominent median palatal raphe
  • Widely-spaced maxillary central incisors


SOURCES: OMIM ORPHANET

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High match MOMO SYNDROME

MOMO SYNDROME Is also known as macrosomia, obesity, macrocephaly, and ocular abnormalities

Related symptoms:

  • Underfolded helix
  • Retinal coloboma
  • Hyperconvex nail
  • Short sternum
  • Cleft eyelid


SOURCES: OMIM ORPHANET

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High match HYPOHIDROTIC ECTODERMAL DYSPLASIA

Related symptoms:

  • Generalized hypopigmentation of hair
  • Breast aplasia
  • Trichorrhexis nodosa
  • Abnormality of the abdominal wall
  • Inflammatory abnormality of the eye


SOURCES: ORPHANET

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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.

Related symptoms:

  • Increased urinary hypoxanthine
  • Molybdenum cofactor deficiency
  • Xanthinuria
  • Xanthine nephrolithiasis
  • Increased urinary taurine


SOURCES: OMIM ORPHANET

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High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of

Related symptoms:

  • Aldehyde oxidase deficiency
  • Increased urinary thiosulfate
  • Decreased urinary urate
  • Absent urinary urothione
  • Reduced xanthine dehydrogenase activity


SOURCES: ORPHANET OMIM

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

Symptoms // Phenotype % Cases
Macrocephaly 60%
Intellectual disability 50%
Autosomal recessive inheritance 50%
Anteverted nares 40%
Downslanted palpebral fissures 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% Thick lower lip vermilion 40% Hypertelorism 40% Long philtrum 40% Obesity 30% Seizures 30% Prominent forehead 30% Epicanthus 30% Nystagmus 30% Growth delay 20% Global developmental delay 20% Low-set ears 20% Wide nasal bridge 20% Abnormality of the dentition 20% Broad forehead 20% Scoliosis 20% Kyphosis 20% Delayed skeletal maturation 20% Coarse facial features 20% Heavy supraorbital ridges 20% Maxillary lateral incisor microdontia 20% Exaggerated median tongue furrow 20% Prominent median palatal raphe 20% Widely-spaced maxillary central incisors 20% Macroorchidism 20% Genu recurvatum 20% Broad palm 20% Tall stature 20% Broad nasal tip 20% Tapered finger 20% Short palm 20% Joint laxity 20% Feeding difficulties in infancy 20% Increased urinary hypoxanthine 20% Molybdenum cofactor deficiency 20% Gliosis 20% Hypohidrosis 20% Microcephaly 20% Everted lower lip vermilion 20% Ventriculomegaly 20% Short nose 20% Depressed nasal bridge 20% Hypoplasia of the corpus callosum 20% Cerebral atrophy 20% Long face 20% Xanthinuria 20% Full cheeks 20% Spastic tetraplegia 20% Genu valgum 20% Ectopia lentis 20% Short stature 20% Xanthine nephrolithiasis 20% Increased urinary taurine 20% Hypouricemia 20% Myoclonic spasms 20% Opisthotonus 20% Peripheral demyelination 20% Axonal loss 20% Short neck 20% Malar flattening 10% Abnormality of immune system physiology 10% Brachycephaly 10% High palate 10% Strabismus 10% Autosomal dominant inheritance 10% Generalized hypopigmentation of hair 10% Keratoconjunctivitis sicca 10% Trichorrhexis nodosa 10% Breast aplasia 10% Inflammatory abnormality of the eye 10% Xerostomia 10% Slow-growing hair 10% Abnormal hair quantity 10% Abnormality of the abdominal wall 10% Aplasia/Hypoplasia of the eyebrow 10% Irregular hyperpigmentation 10% Abnormal facial shape 10% Abnormality of dental morphology 10% Failure to thrive 10% Increased urinary sulfite 10% Decreased urinary sulfate 10% Sulfite oxidase deficiency 10% Reduced xanthine dehydrogenase activity 10% Absent urinary urothione 10% Decreased urinary urate 10% Increased urinary thiosulfate 10% Aldehyde oxidase deficiency 10% Feeding difficulties 10% Cognitive impairment 10% Sinusitis 10% Glaucoma 10% Dry skin 10% Hyperkeratosis 10% Hypoplasia of the maxilla 10% Thin skin 10% Abnormality of the nail 10% Cough 10% Eczema 10% Nephrotic syndrome 10% Reduced number of teeth 10% High forehead 10% Periorbital hyperpigmentation 10% Blindness 10% Scapular winging 10% Recurrent infections 10% Hirsutism 10% Intellectual disability, profound 10% Cerebellar vermis hypoplasia 10% Deep philtrum 10% Postaxial polydactyly 10% Molar tooth sign on MRI 10% Enlarged cisterna magna 10% Protruding ear 10% Dolichocephaly 10% Hyperlordosis 10% Triangular face 10% Pointed chin 10% Slender long bone 10% X-linked recessive inheritance 10% Prominent nasal tip 10% Prominent calcaneus 10% Heterogeneous 10% Hypotrichosis 10% Hypodontia 10% Microdontia 10% Sparse and thin eyebrow 10% Sparse eyelashes 10% Anhidrosis 10% Anodontia 10% Heat intolerance 10% Periorbital wrinkles 10% Hypohidrotic ectodermal dysplasia 10% Rod-cone dystrophy 10% Broad lateral eyebrow 10% Smooth philtrum 10% Macrotia 10% Delayed eruption of teeth 10% Dental malocclusion 10% Cutis marmorata 10% Large hands 10% Long foot 10% Overgrowth 10% Taurodontia 10% Cleft eyelid 10% Short sternum 10% Hyperconvex nail 10% Retinal coloboma 10% Underfolded helix 10% Intellectual disability, mild 10% X-linked dominant inheritance 10% Mixed hearing impairment 10% Prominent supraorbital ridges 10% Everted upper lip vermilion 10% X-linked inheritance 10% Generalized hypotonia 10% Ptosis 10% Brachydactyly 10% Midface retrusion 10% Narrow mouth 10% Neonatal hypotonia 10% Microtia 10% Hypoglycemia 10% Specific learning disability 10% Overfolded helix 10% Spastic tetraparesis

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Frontal bossing and Amenorrhea Diseases and genetic alterations