Motor delay, and Abnormal blistering of the skin

Diseases related with Motor delay and Abnormal blistering of the skin

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

Top matches:

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

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Other less relevant matches:

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

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

Low match DARIER DISEASE

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

DARIER DISEASE Is also known as keratosis follicularis|darier-white disease|dd|darier disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DARIER DISEASE

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

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Alopecia Cataract Abnormality of skin pigmentation Gait disturbance Pain Hypermelanotic macule Macule Global developmental delay Growth delay Skin rash Hypopigmented skin patches Nystagmus Hearing impairment Microcephaly Cutaneous photosensitivity Palmoplantar keratoderma Hypertrichosis Telangiectasia of the skin Abnormality of the testis Erythema Neoplasm Diarrhea Psychosis Carcinoma Thickened skin Hallucinations Abnormality of the nail Gastroesophageal reflux Abnormality of the hair Fragile skin Irregular hyperpigmentation Cognitive impairment Strabismus Visual impairment Generalized hypotonia Scoliosis Muscular hypotonia Muscle weakness

Rare Symptoms - Less than 30% cases

Abnormal eyebrow morphology Aseptic necrosis Abnormality of the skeletal system Skin vesicle Neoplasm of the skin Leukemia Sparse hair Diabetes mellitus Osteoporosis Ridged nail Abnormality of vision Brachydactyly Pruritus Acrokeratosis Abnormal intestine morphology Generalized hirsutism Telangiectasia Peripheral neuropathy Vomiting Paralysis Hypopigmentation of the skin Frontal bossing Abnormality of the skin Abnormality of the dentition Scarring Recurrent respiratory infections Ataxia Insomnia Encephalitis Cirrhosis Confusion Malabsorption Anxiety Depressivity Fever Sensorineural hearing impairment Spasticity Corneal opacity Feeding difficulties Hypodontia Verrucae Skin ulcer Delusions Alopecia of scalp Abnormality of the fingernails Cerebral calcification Papule Oral cleft High palate Hepatic steatosis Hemiplegia/hemiparesis EEG abnormality Cerebral cortical atrophy Abnormality of the eye Camptodactyly of finger Dysphagia Constipation Aggressive behavior Hydrocephalus Absent speech Hypogonadism Abnormality of the kidney Abnormality of cardiovascular system morphology Pes cavus Prominent forehead Clinodactyly Asymmetric growth Supernumerary ribs Deviation of finger Cerebral ischemia Hypoplastic fingernail Hearing abnormality Dystrophic toenail Abnormal toenail morphology Absent hand Uveitis Abnormality of immune system physiology Decreased sensory nerve conduction velocity Babinski sign Supernumerary nipple Keratitis Retinal hemorrhage Abnormal hand morphology Abnormal chorioretinal morphology Respiratory insufficiency Pancytopenia Specific learning disability Nail dysplasia Lymphoma Hypoplasia of the maxilla Recurrent fractures Restless legs Hepatic failure Carious teeth Nail dystrophy Talipes equinovarus Recurrent infections Ridged fingernail Cerebellar hypoplasia Thrombocytopenia Immunodeficiency Splenomegaly Areflexia Intrauterine growth retardation Hepatomegaly Anemia Hyporeflexia Retinal vascular proliferation Broad nail Dementia Chronic axonal neuropathy Abnormality of dental morphology Spastic paraparesis Microphthalmia Hypotension Congestive heart failure Neutral hyperaminoaciduria Hypohidrosis Neuropathic arthropathy Abnormal autonomic nervous system physiology Paraparesis Grasp reflex Glabellar reflex Hyperphenylalaninemia Polyneuropathy Neural tube defect Foot osteomyelitis Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Anosmia Hammertoe Episodic ataxia Anhidrosis Civatte bodies Umbilical hernia Pes planus Cough Eosinophilia Spina bifida occulta Hepatic fibrosis Osteolysis Difficulty walking Abnormality of dental enamel Morphological abnormality of the central nervous system Paronychia Mental deterioration Distal muscle weakness Distal sensory loss of all modalities Sensory neuropathy Blue sclerae Pulmonary arterial hypertension Paresthesia Delayed eruption of teeth Retinal detachment Peripheral axonal neuropathy Distal amyotrophy Finger syndactyly Attention deficit hyperactivity disorder Distal sensory impairment Hyperpigmentation of the skin Postnatal growth retardation Lymphopenia Tapered finger Osteomyelitis Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypergranulosis Striae distensae Scaling skin Palmoplantar hyperkeratosis Epidermal acanthosis Severe vision loss Basal cell carcinoma Dry skin Protruding ear Weight loss Glaucoma Subungual hyperkeratotic fragments Anal mucosal leukoplakia Enlargement of parotid gland Plantar pits Osteosarcoma Palmar pits Fractures of the long bones Hypertension Squamous cell carcinoma Fragile nails Restlessness Edema Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Overgrowth Neoplasm of the liver Eczema Visual hallucinations Hepatocellular carcinoma Milia Abdominal pain Agitation Chronic kidney disease Aspiration Thin skin Sparse scalp hair Tetraplegia Melanoma Tachycardia Nausea Nausea and vomiting Erythroderma Bone cyst Bipolar affective disorder Bone marrow hypocellularity Lamellar cataract Aplastic anemia Acantholysis Oral leukoplakia White hair Periodontitis Taurodontia Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Decreased number of large peripheral myelinated nerve fibers Abnormality of female internal genitalia Aplasia/Hypoplasia of the skin Skeletal muscle atrophy Neurofibromas Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Osteopenia Concave nasal ridge Cellular immunodeficiency Aniridia Displacement of the external urethral meatus Schizophrenia Nevus Poikiloderma Bruxism Intellectual disability, mild Pathologic fracture Absent lacrimal punctum Arthropathy Esophageal stenosis Vocal cord paralysis Palmar hyperkeratosis Congenital bullous ichthyosiform erythroderma Testicular atrophy Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Brisk reflexes Squamous cell carcinoma of the skin Abnormality of the pharynx Urethral stenosis Nasal polyposis Gingivitis Tetralogy of Fallot Pachygyria Mitral regurgitation Depressed nasal ridge Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Abnormality of the ribs Coarctation of aorta Optic disc pallor Hypoplasia of penis Epileptic encephalopathy Decreased body weight Hip dysplasia Intestinal malrotation Delayed myelination Brain atrophy Bifid uvula Renal cyst Short foot Polymicrogyria Cleft upper lip Poor speech Synophrys Hypermetropia Heterotopia Large fontanelles Dilated cardiomyopathy Delayed gross motor development Polyphagia Dysphasia Delayed cranial suture closure Metatarsus adductus Congenital sensorineural hearing impairment Clitoral hypertrophy Self-injurious behavior Hand polydactyly Failure to thrive in infancy Patent foramen ovale Pyloric stenosis Infantile muscular hypotonia Stereotypy Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Spastic tetraparesis Narrow palpebral fissure Pointed chin Wide anterior fontanel Short phalanx of finger Abnormality of the cerebral white matter Small for gestational age Infantile spasms Downslanted palpebral fissures Malar flattening Long philtrum Kyphosis Behavioral abnormality Myopathy Atrial septal defect Cardiomyopathy Hypoplasia of the corpus callosum Anteverted nares Ventriculomegaly Ventricular septal defect Optic atrophy Midface retrusion Myopia Wide nasal bridge Epicanthus Depressed nasal bridge Delayed speech and language development Low-set ears Cryptorchidism Cleft palate Abnormal facial shape Micrognathia Failure to thrive Hypertelorism Cerebral atrophy Obesity Neurological speech impairment Conductive hearing impairment Microtia Abnormal cardiac septum morphology Coloboma Blepharophimosis Abnormality of the liver Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Hydronephrosis Neonatal hypotonia Deeply set eye Hypospadias Mandibular prognathia Hypothyroidism Autism Narrow mouth Micropenis Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Agenesis of corpus callosum Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus High hypermetropia Abnormal heart valve morphology Emotional lability Abnormal parietal bone morphology Subcutaneous nodule Thick lower lip vermilion Memory impairment Respiratory tract infection Abnormality of the nervous system Dystonia Respiratory distress Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Hyperplastic labia majora Oligodontia Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder 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 Noncompaction cardiomyopathy Hoarse voice Oral-pharyngeal dysphagia Abnormal social behavior Hypertonia Aminoaciduria Diplopia Chronic diarrhea Inflammatory abnormality of the skin Aciduria Migraine Vertigo Unsteady gait Photophobia Gait ataxia Headache Tremor Acne Dysarthria Hyperreflexia Ptosis Bilateral intracranial calcifications Tongue nodules Hoarse cry Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Microglossia Pustule Cranial nerve VI palsy Talipes valgus Abnormality of the immune system Self-mutilation Dilation of lateral ventricles 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Hiatus hernia Arnold-Chiari type I malformation Volvulus Overweight Epileptic spasms Abnormal lung lobation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Neuroblastoma Slender long bone Absent septum pellucidum Delayed CNS myelination Redundant neck skin Abnormal external genitalia Lambdoidal craniosynostosis Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Impaired social interactions Left ventricular noncompaction Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Autoamputation of foot


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Increased serum lactate, related diseases and genetic alterations Hydrocephalus and Sepsis, related diseases and genetic alterations Skeletal muscle atrophy and Colitis, related diseases and genetic alterations Ptosis and Small nail, related diseases and genetic alterations Cryptorchidism and Renal cyst, related diseases and genetic alterations Generalized hypotonia and Lymphoma, related diseases and genetic alterations