Abnormal facial shape, and Abnormal blistering of the skin

Diseases related with Abnormal facial shape and Abnormal blistering of the skin

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormal blistering of the skin that can help you solving undiagnosed cases.


Top matches:

Low match INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB Is also known as ;congenital ilneb syndrome; congenital nep syndrome; congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome; congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome; congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome; jeb with respiratory and renal involvement; jeb-rr

Related symptoms:

  • Autosomal recessive inheritance
  • Microcephaly
  • Hypertelorism
  • Fever
  • Renal insufficiency


SOURCES: MONDO OMIM UMLS ORPHANET

More info about INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB

Low match CHROMOSOME 1p36 DELETION SYNDROME

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH ), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (OMIM ) on proximal chromosome 1p36.

CHROMOSOME 1p36 DELETION SYNDROME Is also known as monosomy 1p36 syndrome;del(1)(p36); deletion 1p36; deletion 1pter; monosomy 1p36; monosomy 1pter; subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: GARD UMLS ORPHANET MONDO SCTID DOID OMIM NCIT MESH

More info about CHROMOSOME 1p36 DELETION SYNDROME

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA

Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.

JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA Is also known as ebj-i; inverse jeb; jeb-i

Related symptoms:

  • Milia
  • Nail dystrophy
  • Abnormal blistering of the skin
  • Atrophic scars


SOURCES: ORPHANET

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA

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Low match SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.

SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS Is also known as ichthyosis bullosa of siemens; sei

Related symptoms:

  • Edema
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET SCTID UMLS

More info about SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS

Low match PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.

PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS Is also known as infiltrative small vesicular dcm; infiltrative small vesicular diffuse cutaneous mastocytosis; pseudoxanthomatous dcm

Related symptoms:

  • Abnormal blistering of the skin
  • Cutaneous mastocytosis


SOURCES: ORPHANET

More info about PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

Low match EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB

Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features.Epidermolysis bullosa simplex (see, e.g., {131800}) and epidermolysis bullosa junctional (see, e.g., {226700}) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB Is also known as dystrophic epidermolysis bullosa, autosomal dominant, epidermolysis bullosa dystrophica, cockayne-touraine type;ebdct, epidermolysis bullosa dystrophica, pasini type, albopapuloid dominant dystrophic epidermolysis bullosa;ebdd

Related symptoms:

  • Autosomal dominant inheritance
  • Milia
  • Nevus
  • Congenital onset
  • Nail dystrophy


SOURCES: GARD MONDO ORPHANET OMIM DOID

More info about EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB

Low match LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.

LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA Is also known as eb progressive; jeb-lo

Related symptoms:

  • Nail dystrophy
  • Abnormal blistering of the skin
  • Atrophic scars
  • Palmoplantar hyperhidrosis
  • Adermatoglyphia


SOURCES: ORPHANET

More info about LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA

Low match ICHTHYOSIS BULLOSA OF SIEMENS; IBS

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

ICHTHYOSIS BULLOSA OF SIEMENS; IBS Is also known as ichthyosis, bullous type;autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa

Related symptoms:

  • Autosomal dominant inheritance
  • Erythema
  • Hyperkeratosis
  • Hyperhidrosis
  • Ichthyosis


SOURCES: OMIM GARD DOID ORPHANET MONDO MESH NCIT

More info about ICHTHYOSIS BULLOSA OF SIEMENS; IBS

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2

EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012).

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2 Is also known as ;dst-related epidermolysis bullosa simplex; ebs-ar bp230

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Abnormality of the nervous system
  • Carious teeth
  • Nail dystrophy


SOURCES: MONDO OMIM UMLS ORPHANET

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2

Low match EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL

Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL Is also known as dystrophic epidermolysis bullosa, pretibial, deb, pretibial, epidermolysis bullosa, pretibial;deb-pt; pretibial deb

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Milia
  • Hyperkeratosis
  • Pruritus


SOURCES: GARD MONDO ORPHANET UMLS SCTID OMIM MESH

More info about EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Nail dystrophy Common - Between 50% and 80% cases
Skin vesicle Uncommon - Between 30% and 50% cases
Milia Uncommon - Between 30% and 50% cases
Atrophic scars 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 Abnormal facial shape and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Scarring Erythema

Rare Symptoms - Less than 30% cases


Narrow mouth Dystrophic toenail Hypertelorism Hyperkeratosis Microcephaly Ichthyosis Prominent forehead Pyloric stenosis Patent foramen ovale Leukoencephalopathy Abnormality of vision Cranial nerve paralysis Hemiplegia/hemiparesis Metatarsus adductus Abnormal intestine morphology Bicuspid aortic valve Self-injurious behavior Delayed cranial suture closure Abnormality of the immune system Dysphasia Spastic tetraparesis Facial cleft Polyphagia Absent septum pellucidum Submucous cleft hard palate Infantile spasms Abnormal lung lobation Congenital hypothyroidism High hypermetropia Abnormal heart valve morphology Foot polydactyly Hypercholesterolemia Generalized hirsutism Pointed chin Hip dysplasia Renal cyst Hypermetropia Polymicrogyria Hepatic steatosis Short foot Poor speech Bifid uvula Delayed myelination Hypoplasia of penis Tetralogy of Fallot Optic disc pallor Stereotypy Tetraparesis Depressed nasal ridge Pachygyria Hypsarrhythmia Hepatitis Hypertrichosis Wide anterior fontanel Heterotopia Neuroblastoma Telangiectasia Macule Spinal canal stenosis Lower limb asymmetry Overweight Congenital localized absence of skin Agenesis of the anterior commissure Edema Palmoplantar keratoderma Thin skin Acantholysis Cutaneous mastocytosis Nevus Congenital onset Papule Nail dysplasia White papule Palmoplantar hyperhidrosis Abnormality of the hairline Adermatoglyphia Hyperhidrosis Erythroderma Lichenification Congenital bullous ichthyosiform erythroderma Abnormality of the nervous system Carious teeth Pruritus Abnormality of the skin Atypical scarring of skin Dystrophic fingernails Ebstein anomaly of the tricuspid valve Noncompaction cardiomyopathy Aortic root aneurysm 11 pairs of ribs Abnormal eyebrow morphology Ocular albinism Short 5th finger Abnormality of the neck Optic nerve coloboma Abnormality of the kidney Self-mutilation Delayed closure of the anterior fontanelle Dilation of lateral ventricles Delayed CNS myelination Rib fusion Thickened helices Bifid ribs Left ventricular noncompaction Abnormality of the spleen Abnormality of female external genitalia Impaired social interactions Horizontal eyebrow Abnormality of the anus Annular pancreas Aortic arch aneurysm Cranial nerve VI palsy Asymmetry of the ears Oppositional defiant disorder Dilated cardiomyopathy Deeply set eye Cleft upper lip Growth delay Crossed fused renal ectopia Respiratory acidosis Junctional split Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Pica Hearing impairment Scoliosis Nystagmus Onycholysis Strabismus Failure to thrive Sensorineural hearing impairment Motor delay Muscular hypotonia Cryptorchidism Cataract Cognitive impairment Myopathy Low-set ears Depressed nasal bridge Decreased glomerular filtration rate Tubular atrophy Epicanthus Recurrent pneumonia Fever Renal insufficiency Respiratory distress Pneumonia Recurrent respiratory infections Macrotia Proteinuria Respiratory tract infection Nephrotic syndrome Narrow chest Round face Sparse scalp hair Fragile skin Fine hair Sparse and thin eyebrow Gynecomastia Cyanosis Abnormal lung morphology Sparse eyelashes Neonatal respiratory distress Hypoalbuminemia Ectopic kidney Glomerulosclerosis Focal segmental glomerulosclerosis Interstitial pulmonary abnormality Visual impairment High palate Abnormal cardiac septum morphology Feeding difficulties in infancy Constipation Posteriorly rotated ears Brachycephaly Absent speech Mandibular prognathia Hypogonadism Hypothyroidism Gastroesophageal reflux Autism EEG abnormality Conductive hearing impairment Hydronephrosis Cerebral cortical atrophy Aggressive behavior Sporadic Camptodactyly of finger Joint stiffness Blepharophimosis Low-set, posteriorly rotated ears Coloboma Camptodactyly Neurological speech impairment Microtia Synophrys Abnormality of the liver Upslanted palpebral fissure Agenesis of corpus callosum Delayed speech and language development Hydrocephalus Brachydactyly Downslanted palpebral fissures Myopia Wide nasal bridge Optic atrophy Tics Frontal bossing Ventriculomegaly Gait disturbance Ventricular septal defect Dysphagia Hypoplasia of the corpus callosum Cardiomyopathy Pes cavus Abnormality of the skeletal system Long philtrum Kyphosis Malar flattening Abnormality of cardiovascular system morphology Behavioral abnormality Hypospadias Midface retrusion Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus Obesity Pretibial blistering



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