Macrocephaly, and Erythema

Diseases related with Macrocephaly and Erythema

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

Top matches:

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-hÜnermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Other less relevant matches:

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

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

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Low match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Top 5 symptoms//phenotypes associated to Macrocephaly and Erythema

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Dry skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Erythema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Scaling skin Growth delay Cataract Cutaneous photosensitivity Scoliosis Ataxia Global developmental delay Ichthyosis Flexion contracture Photophobia Myopia Neoplasm of the skin Muscular hypotonia Neoplasm Seizures Nystagmus Sparse eyelashes Abnormality of the nervous system Epicanthus Alopecia Clinodactyly of the 5th finger Kyphosis

Rare Symptoms - Less than 30% cases

Dysarthria Hypertelorism Abnormality of the skeletal system Cafe-au-lait spot Cryptorchidism Thickened skin Micrognathia Short neck Generalized hypotonia Palmoplantar keratoderma Edema Delayed speech and language development Abnormality of the dentition Malar flattening Decreased body weight Telecanthus Failure to thrive Inguinal hernia Feeding difficulties Hepatomegaly Immunodeficiency Hypertonia Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Telangiectasia Prominent forehead Hyperhidrosis Abnormality of the nail Palmoplantar hyperkeratosis Patchy alopecia Aspiration Delayed myelination Brain atrophy Abnormal blistering of the skin Macrotia Downslanted palpebral fissures Defective DNA repair after ultraviolet radiation damage Frontal bossing Glaucoma Intrauterine growth retardation Tremor Spasticity Depressivity Sensorineural hearing impairment Tubular atrophy Astigmatism Optic atrophy Interstitial pulmonary abnormality Renal insufficiency Pneumonia Proteinuria Abnormality of the cerebral white matter Sparse hair Ptosis Recurrent pneumonia Abnormality of the testis Hydronephrosis Skeletal dysplasia Abnormal lung morphology Polyhydramnios Sparse and thin eyebrow Weight loss Nail dystrophy Abnormality of hair texture Respiratory tract infection Infantile spasms Fine hair Biparietal narrowing Generalized hyperpigmentation Leukemia Microphthalmia Neurological speech impairment Pruritus Skin rash Hypermelanotic macule Hypertrichosis Generalized hirsutism Protruding ear Corneal opacity Narrow chest Abnormality of the hair Narrow mouth Macule Irregular hyperpigmentation Diffuse palmoplantar hyperkeratosis Recurrent respiratory infections Tapered finger Hypergranulosis Epidermal acanthosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Respiratory distress Patchy palmoplantar keratoderma Fever Abnormality of the pulmonary artery Diabetes mellitus Hypoplasia of the frontal lobes Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperextensibility of the finger joints Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Optic nerve dysplasia Cutaneous T-cell lymphoma Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Excessive wrinkled skin Morphological abnormality of the gastrointestinal tract Inappropriate crying Brachydactyly Bilateral microphthalmos Drusen Abnormality of visual evoked potentials Intellectual disability, profound High myopia Spastic tetraplegia Asthma Generalized myoclonic seizures Tetraplegia Pallor Broad-based gait Abnormality of the auditory canal Abnormal aortic valve morphology Intention tremor Congenital cataract Small for gestational age Mental deterioration Pes cavus Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Round face Wide nasal bridge Cyanosis IgA deficiency Generalized lymphadenopathy Conjunctival telangiectasia IgM deficiency Demyelinating peripheral neuropathy Recurrent viral infections Mild global developmental delay Chronic sinusitis IgG deficiency Episodic fever Recurrent sinusitis Enuresis nocturna Bronchitis Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Clumsiness Specific learning disability Otitis media Arthritis Respiratory failure Abdominal pain Elevated alpha-fetoprotein Intraventricular hemorrhage Diarrhea Muscle cramps Seborrheic keratosis Cholangiocarcinoma Morphological abnormality of the central nervous system Verrucae Freckling Bone marrow hypocellularity Microdontia Prominent nose Chorea Progressive cerebellar ataxia Papule Increased sensitivity to ionizing radiation Attention deficit hyperactivity disorder Deeply set eye Hyperactivity Dementia Cerebellar atrophy Hypertension Anemia Poor hand-eye coordination Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Headache Gait disturbance Nephrotic syndrome Respiratory acidosis Spastic diplegia Urticaria Macular degeneration Abnormality of dental enamel Abnormality of retinal pigmentation Abnormal pyramidal sign Retinopathy Joint stiffness Junctional split Crossed fused renal ectopia Inflammatory abnormality of the eye Decreased glomerular filtration rate Onycholysis Fragile skin Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Gynecomastia Sparse scalp hair Corneal erosion Thickened helices Abnormal facial shape Myelodysplasia Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Abnormality of chromosome stability Acute leukemia Severe combined immunodeficiency Telangiectasia of the skin Combined immunodeficiency Leukocytosis Psoriasiform dermatitis Low anterior hairline Recurrent infections Type II diabetes mellitus Pancytopenia Hypoplasia of penis Lymphoma Thin vermilion border Lymphadenopathy Malabsorption Hypothyroidism Brachycephaly Upslanted palpebral fissure Subvalvular aortic stenosis Large for gestational age Slow-growing hair Congestive heart failure Constipation Delayed skeletal maturation Abnormal heart morphology Encephalopathy Pectus excavatum Long philtrum Short nose Splenomegaly Behavioral abnormality Vomiting Cerebral cortical atrophy Blindness Intellectual disability, severe Atrial septal defect Cardiomyopathy Hydrocephalus Anteverted nares Ventriculomegaly Ventricular septal defect Dysphagia Posteriorly rotated ears Autism High palate Feeding difficulties in infancy Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Dolichocephaly Pectus carinatum Abnormal cardiac septum morphology Scarring Irritability Abnormality of the kidney Proptosis Abnormality of the eye Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Aggressive behavior EEG abnormality Umbilical hernia Coarse facial features Osteopenia Gastroesophageal reflux High forehead Depressed nasal bridge Low-set ears Abnormality of skin pigmentation Microcornea Joint dislocation Hemivertebrae Abnormal vertebral morphology Rhizomelia Abnormality of epiphysis morphology Limb undergrowth Dandy-Walker malformation Hip dysplasia Esotropia Postaxial polydactyly Abnormality of pelvic girdle bone morphology Flat face Talipes Abnormality of the pinna Postnatal growth retardation Intellectual disability, moderate Kyphoscoliosis Polydactyly Midface retrusion Talipes equinovarus Abnormality of the fingernails Coarse hair Strabismus Scarring alopecia of scalp Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Hemiatrophy Butterfly vertebrae Abnormality of the thorax Dry hair Concave nasal ridge Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Erythroderma Peripheral axonal neuropathy Long face Abnormal mitral valve morphology Malnutrition Curly hair Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Open bite Anal stenosis Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Submucous cleft hard palate Underdeveloped supraorbital ridges Failure to thrive in infancy Woolly hair Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Short attention span Poor appetite Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Bilateral ptosis Brittle hair Joint hypermobility Nevus Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Full cheeks Coarctation of aorta Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bruising susceptibility Bulbous nose Falls Cardiomegaly Low posterior hairline Redundant skin Hemangioma Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Abnormality of vision Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Myocardial infarction Abnormal palate morphology Cutis laxa Oculomotor apraxia Narrow palate Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Open mouth Inflammatory abnormality of the skin Hemiparesis Numerous pigmented freckles


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Clinodactyly of the 5th finger, related diseases and genetic alterations Hepatomegaly and Short nose, related diseases and genetic alterations