Microcephaly, and Abnormal blistering of the skin

Diseases related with Microcephaly and Abnormal blistering of the skin

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

Top matches:

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

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.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Other less relevant matches:

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Medium match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA

Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Alopecia Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Malabsorption Nail dystrophy Ridged nail Intellectual disability Cataract Abnormal eyebrow morphology Macule Hyperkeratosis Dry skin Hypermelanotic macule Weight loss Paronychia Abnormality of the testis Recurrent respiratory infections Nystagmus Cerebral cortical atrophy Optic atrophy Pustule Growth delay Hepatomegaly Splenomegaly Skin ulcer Blepharitis Hyperhidrosis Seizures Sparse hair Hydrocephalus

Rare Symptoms - Less than 30% cases

Abnormality of cardiovascular system morphology Dermal atrophy Diabetes mellitus Abnormality of skin pigmentation Pallor Immunodeficiency Abnormality of the dentition Strabismus Neoplasm Abnormality of the skin Aseptic necrosis Nail dysplasia Gastroesophageal reflux Pes cavus Recurrent infections Gait disturbance Muscle weakness Sensorineural hearing impairment Generalized hypotonia Hypodontia Increased bone mineral density Hyperpigmentation of the skin Recurrent fractures Hypogonadism Cleft palate Abnormality of the ribs Cranial nerve paralysis Telangiectasia of the skin Abnormal intestine morphology Bone marrow hypocellularity Pancytopenia Scarring Fine hair Carious teeth Anemia Cleft upper lip Ataxia Scoliosis Global developmental delay Nail pits Nevus Tremor Delayed eruption of teeth Narrow chest Emotional lability Fever Muscular hypotonia Hypertelorism Photophobia Chronic diarrhea Anorexia Neoplasm of the skin Generalized hirsutism Abnormality of the nail Poor appetite Narrow mouth Hypertrichosis Corneal erosion Palmoplantar keratoderma Furrowed tongue Cheilitis Skin rash Glossitis Brachydactyly Ridged fingernail Prominent forehead Conjunctivitis Skin vesicle Pulmonary artery stenosis Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Hypocalcemia Leukoencephalopathy Hypercholesterolemia Low alkaline phosphatase Diarrhea Pyloric stenosis Spastic tetraparesis Narrow palpebral fissure Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Decreased body weight Heterotopia Abnormality of vision Patent foramen ovale Mitral regurgitation Dysphasia Sepsis Otitis media Pulmonary arterial hypertension Abnormal eyelid morphology Abnormality of the immune system Abnormality of the metaphysis Abnormal heart valve morphology Infantile spasms High hypermetropia Polyphagia Delayed cranial suture closure Bone pain Bowing of the long bones Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Abnormality of epiphysis morphology Self-injurious behavior Irritability Hand polydactyly Abnormality of the tongue Failure to thrive in infancy Pachygyria Depressed nasal ridge Lymphadenopathy Camptodactyly Microtia Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Blepharophimosis Abnormality of the liver Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Abnormality of the eye Abnormality of the kidney Small for gestational age Low-set, posteriorly rotated ears Aggressive behavior Hydronephrosis Neonatal hypotonia Conductive hearing impairment Deeply set eye EEG abnormality Mandibular prognathia Hypothyroidism Autism Hypophosphatemia Neurological speech impairment Dilated cardiomyopathy Tetraparesis Hip dysplasia Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Generalized abnormality of skin Coarctation of aorta Optic disc pallor Hypoplasia of penis Reduced bone mineral density Tetralogy of Fallot Epileptic encephalopathy Intestinal malrotation Abnormality of the cerebral white matter Delayed myelination Brain atrophy Bifid uvula Renal cyst Short foot Hepatic steatosis Polymicrogyria Oral cleft Poor speech Synophrys Hypermetropia Bruising susceptibility Absent septum pellucidum Psoriasiform dermatitis Abnormality of the anus Abnormality of hair texture Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Gastric ulcer Abnormal social behavior Abnormality of the mandible Abnormality of metabolism/homeostasis Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Steatorrhea Abnormality of chromosome stability Talipes valgus Cranial nerve VI palsy Abnormal left ventricle morphology Aplasia/Hypoplasia involving bones of the feet Osteopetrosis Macrocephaly Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of visual evoked potentials Abnormality of the cerebral ventricles Abnormal parietal bone morphology Inflammatory abnormality of the skin Hyperplastic labia majora Congenital talipes calcaneovalgus Noncompaction cardiomyopathy Premature loss of primary teeth Bilobate gallbladder Chronic rhinitis Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Biliary tract abnormality Abnormal renal physiology Slender long bone Arnold-Chiari type I malformation Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Recurrent candida infections Hiatus hernia Self-mutilation Overweight Craniosynostosis Reticulocytosis Epileptic spasms Abnormal lung lobation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Abnormality of movement Neuroblastoma Abnormality of the neck Lethargy Colpocephaly Delayed closure of the anterior fontanelle Respiratory failure Hepatosplenomegaly Alopecia of scalp Abnormality of temperature regulation Thickened helices Impaired T cell function Decreased testosterone in males Abnormal pulmonary valve morphology Optic nerve compression Rib fusion Abnormality of the spleen 11 pairs of ribs Opsoclonus Left ventricular noncompaction Decreased taste sensation Facial palsy Redundant neck skin Decreased testicular size Volvulus Apnea Delayed CNS myelination Dilation of lateral ventricles Hypotrichosis Micropenis Esophageal stenosis Brachycephaly Pes planus Polyneuropathy Sensory neuropathy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Paresthesia Cough Distal muscle weakness Paralysis Mental deterioration Difficulty walking Dementia Hypohidrosis Babinski sign Hyporeflexia Areflexia Respiratory insufficiency Talipes equinovarus Skeletal muscle atrophy Peripheral neuropathy Pain Junctional split Respiratory acidosis Crossed fused renal ectopia Hypotension Abnormal autonomic nervous system physiology Onycholysis Morphological abnormality of the central nervous system Retinal detachment Papule Kyphoscoliosis Visual loss Microphthalmia Spasticity Autoamputation of foot Foot osteomyelitis Neuropathic arthropathy Civatte bodies Distal sensory loss of all modalities Chronic axonal neuropathy Paraparesis Decreased sensory nerve conduction velocity Restless legs Decreased number of large peripheral myelinated nerve fibers Vocal cord paralysis Arthropathy Pathologic fracture Osteomyelitis Brisk reflexes Anhidrosis Hammertoe Anosmia Spastic paraparesis Decreased glomerular filtration rate Tubular atrophy Tetraplegia Abnormal mast cell morphology Abnormality of the hair Thickened skin Cutaneous photosensitivity Epidermal acanthosis Tapered finger Pruritus Corneal opacity Protruding ear Glaucoma Abnormality of epidermal morphology Abnormality of buccal mucosa Fragmented elastic fibers in the dermis Scaling skin Abnormality of the cheek Unilateral cleft lip Aplasia cutis congenita Cupped ear Intracranial hemorrhage Hemangioma Cutis laxa Short chin Hemiparesis Focal-onset seizure Cleft lip Palmoplantar hyperkeratosis Irregular hyperpigmentation Fragile skin Sparse scalp hair Interstitial pulmonary abnormality Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Sparse eyelashes Recurrent pneumonia Gynecomastia Sparse and thin eyebrow Abnormal lung morphology Nephrotic syndrome Hypergranulosis Cyanosis Round face Respiratory tract infection Proteinuria Macrotia Pneumonia Renal insufficiency Respiratory distress Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypopigmentation of the skin Ectodermal dysplasia Upslanted palpebral fissure Palmar hyperkeratosis Epicanthus Depressed nasal bridge Delayed speech and language development Feeding difficulties High palate Cognitive impairment Low-set ears Cryptorchidism Abnormal facial shape Micrognathia Absent lacrimal punctum Displacement of the external urethral meatus Myopia Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Wide nasal bridge Downslanted palpebral fissures Cellular immunodeficiency Cerebral atrophy Posteriorly rotated ears Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus Clinodactyly Hypospadias Obesity Absent speech Midface retrusion Malar flattening Frontal bossing Long philtrum Kyphosis Behavioral abnormality Myopathy Atrial septal defect Cardiomyopathy Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Ventricular septal defect Abnormality of the skeletal system Dysphagia Testicular atrophy Abnormality of female internal genitalia Lymphedema Thick nail Intrauterine growth retardation Atrophic, patchy alopecia Retinal vascular proliferation Hyperpigmented streaks Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Generalized osteosclerosis Conical tooth Cerebellar hypoplasia Anodontia Hypoplasia of the fovea Abnormality of the vasculature Uveitis Hypoplastic nipples Supernumerary nipple Hyperostosis Keratitis Coarse hair Eosinophilia Hemivertebrae Thrombocytopenia Osteoporosis Aplastic anemia Pulmonary fibrosis Oral leukoplakia White hair Periodontitis Taurodontia Neoplasm of the pancreas Abnormal eyelash morphology Premature loss of teeth Aplasia/Hypoplasia of the skin Neurofibromas Abnormality of coagulation Premature graying of hair Epiphora Leukemia Tracheoesophageal fistula Myelodysplasia Hypopigmented skin patches Abnormality of the fingernails Lymphopenia Hepatic fibrosis Cerebral calcification Specific learning disability Lymphoma Hypoplasia of the maxilla Hepatic failure Cirrhosis Increased serum zinc


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