Growth delay, and Scarring

Diseases related with Growth delay and Scarring

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

Top matches:

EHLERS-DANLOS SYNDROME TYPE 7A Is also known as eds viia

Related symptoms:

  • Short stature
  • Muscle weakness
  • Joint hyperflexibility
  • Thin skin
  • Hyperextensible skin


SOURCES: ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7A

Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14 Is also known as krt14-related autosomal recessive ebs|krt14-related autosomal recessive epidermolysis bullosa simplex|ebs-ar krt14|ebs, autosomal recessive k14

Related symptoms:

  • Growth delay
  • Anemia
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as junctional epidermolysis bullosa, disentis type|generalized junctional epidermolysis bullosa, non-herlitz type|gabeb|jeb-nh gen|jeb, generalized intermediate|generalized atrophic benign epidermolysis bullosa|junctional epidermolysis bullosa generalisata m

Related symptoms:

  • Growth delay
  • Anemia
  • Nail dystrophy
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Other less relevant matches:

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe|epidermolysis bullosa herpetiformis, dowling-meara type

Related symptoms:

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Low match ACROGERIA

ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH Is also known as acromesomelic dwarfism

Related symptoms:

  • Short stature
  • Abnormality of the skeletal system
  • Severe short stature
  • Scarring
  • Corneal opacity


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH

Top 5 symptoms//phenotypes associated to Growth delay and Scarring

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Atrophic scars Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Milia Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal blistering of the skin Palmoplantar keratoderma

Rare Symptoms - Less than 30% cases

Cirrhosis Global developmental delay Failure to thrive Edema Intellectual disability Hypothyroidism Abdominal distention Recurrent infections Fatigue Muscle weakness Inflammatory abnormality of the skin Hepatomegaly Hypercholesterolemia Nail dystrophy Joint hyperflexibility Thin skin Carious teeth Ichthyosis Short foot Abnormality of the skin Podocyte foot process effacement Small hand Joint hypermobility Skeletal dysplasia Cataract Glomerulosclerosis Micrognathia Neonatal respiratory distress Small for gestational age Scoliosis Hypoalbuminemia Heavy proteinuria Elevated amniotic fluid alpha-fetoprotein Nephrotic syndrome Mesangial hypercellularity Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Pyloric stenosis Focal segmental glomerulosclerosis Diffuse mesangial sclerosis Abnormality of the renal tubule Hypoproteinemia Hyperlipidemia Confusion Stage 5 chronic kidney disease Tubular atrophy Delayed eruption of permanent teeth Premature skin wrinkling Convex nasal ridge Radial bowing Short long bone Hypoplasia of the radius Elbow dislocation Hypoplasia of the ulna Fibular hypoplasia Short tibia Mesomelic short stature Short thumb Severe short-limb dwarfism Shortening of all middle phalanges of the fingers Acromesomelia Distal femoral bowing Abnormally shaped carpal bones Cuboidal metacarpal Joint dislocation Limb undergrowth Fine hair Irregular hyperpigmentation Skin ulcer Dermal atrophy Lipoatrophy Aplasia/Hypoplasia of the skin Telangiectasia of the skin Prematurely aged appearance Abnormality of the kidney Single transverse palmar crease Excessive wrinkled skin Cigarette-paper scars Abnormality of the skeletal system Severe short stature Corneal opacity Hip dislocation Respiratory tract infection Progressive muscle weakness Proteinuria Pallor Clinodactyly Thrombocytopenia Immunodeficiency Fever Brachydactyly Seizures Atransferrinemia Hypochromic anemia Hypochromic microcytic anemia Abnormality of the pancreas Microcytic anemia Abnormality of the cardiovascular system Abnormality of the liver Arthritis Autoimmunity Pneumonia Congestive heart failure Skin vesicle Palmoplantar hyperkeratosis Nail dysplasia Sepsis Hyperkeratosis Oral mucosal blisters Scarring alopecia of scalp Aplasia cutis congenita Sparse body hair Anonychia Abnormality of skin pigmentation Hyperextensible skin Pes planus Everted lower lip vermilion Gastroesophageal reflux Irritability Renal insufficiency Increased muscle glycogen content Increased hepatic glycogen content Exercise-induced myalgia Recurrent hypoglycemia Ketosis Myoglobinuria Exercise intolerance Muscle stiffness Decreased liver function Hypertriglyceridemia Muscle cramps Nausea Nausea and vomiting Myalgia Bifid uvula Hypoglycemia Headache Diarrhea Vomiting Skeletal muscle atrophy Pain Generalized hypotonia Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Vasculitis Subcutaneous nodule Shortening of all proximal phalanges of the fingers


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