Microcephaly, and Basal cell carcinoma

Diseases related with Microcephaly and Basal cell carcinoma

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

Top matches:

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates|photosensitivity with defective dna synthesis|xpv

Related symptoms:

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM VARIANT

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Other less relevant matches:

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Microcephaly and Basal cell carcinoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Medulloblastoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Basal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Ventriculomegaly Short stature Growth delay Carcinoma Cutaneous photosensitivity Freckling Ataxia Hypopigmentation of the skin Nystagmus Hydrocephalus Retinopathy Polydactyly Dry skin Strabismus Hearing impairment Dermal atrophy Agenesis of corpus callosum Syndactyly Coloboma Iris coloboma

Rare Symptoms - Less than 30% cases

Neurofibromas Ichthyosis Facial asymmetry Sparse hair Brain neoplasm Retrognathia Pneumonia Recurrent infections Rhabdomyosarcoma Microcornea Hemimegalencephaly Fragile nails Abnormality of the ribs Nephroblastoma Cardiac fibroma Exotropia Nevus Odontogenic keratocysts of the jaw Oral cleft Calcification of falx cerebri Palmar pits Ovarian fibroma Melanocytic nevus Plantar pits Astrocytoma Epicanthus Telecanthus Seizures EEG abnormality Kyphoscoliosis Pectus excavatum Frontal bossing Downslanted palpebral fissures Cerebral calcification Macrocephaly Muscular hypotonia Alopecia Brachycephaly Hyperpigmentation of the skin Optic atrophy Hyperreflexia Cutaneous melanoma Dysarthria Poikiloderma Squamous cell carcinoma Melanoma Progeroid facial appearance Hypogonadism Squamous cell carcinoma of the skin Telangiectasia Spasticity Photophobia Hypertelorism Nevus sebaceus Low-set ears Thickened ears Feeding difficulties Metopic synostosis Short neck Kyphosis Nevus sebaceous Short nose Linear nevus sebaceous Hyperactivity Long philtrum Trigonocephaly Odontogenic neoplasm Odontoma Abnormality of the vertebral column Abnormality of toe Ventricular septal defect Umbilical hernia Joint hyperflexibility Delayed eruption of teeth Tall stature Accelerated skeletal maturation Arnold-Chiari malformation Large for gestational age Narrow mouth Bridged sella turcica Immunodeficiency Severe hydrocephalus Neoplasm of the endocrine system Broad face Ulcerative colitis Ectopic calcification Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Abnormality of the sense of smell Vertebral wedging Parietal bossing Ovarian carcinoma Multiple impacted teeth Short distal phalanx of the thumb Nephropathy Membranous nephropathy Orbital cyst Histiocytoma Enterocolitis Curved fingers Verrucae Bifid ribs Cardiac rhabdomyoma Recurrent lower respiratory tract infections Recurrent skin infections Nephrotic syndrome Neutropenia Irregular ossification of hand bones Hamartomatous stomach polyps Leukemia Epidermal nevus Sepsis Hyperphosphaturia Pachygyria Coarctation of aorta Overgrowth Dandy-Walker malformation Generalized muscle weakness Recurrent fractures Talipes Plagiocephaly Ophthalmoplegia Hypophosphatemic rickets Corneal opacity Attention deficit hyperactivity disorder Porencephalic cyst Cavernous hemangioma Horseshoe kidney Reduced tendon reflexes Abnormality of the nervous system Abnormality of finger Dilatation of the cerebral artery Gangrene Irregular hyperpigmentation Osteomalacia Biparietal narrowing Vertebral segmentation defect Hemihypertrophy Aplasia/Hypoplasia of the corpus callosum Prominent occiput Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Rickets Precocious puberty Abnormality of vision Hemangioma Abnormality of the eye Osteopenia Lymphoma Multiple cafe-au-lait spots Intestinal polyposis Pituitary adenoma Abnormality of abdomen morphology Acute lymphoblastic leukemia Hodgkin lymphoma Neuroblastoma Multiple lipomas Lisch nodules Colon cancer Hypermelanotic macule Sarcoma Cafe-au-lait spot Heterotopia Genu recurvatum Glioma Neoplasm of the central nervous system Asymmetric growth Hepatomegaly Dilatation Blindness Short 4th metacarpal Adenoma sebaceum Talipes equinovarus Abnormality of dental color Cranial asymmetry Intestinal polyp Adenocarcinoma of the colon Acute myelomonocytic leukemia Gray matter heterotopias Axillary freckling Colorectal polyposis Glioblastoma multiforme Ependymoma Abnormality of the neck Cleft upper lip Skin tags Cutaneous finger syndactyly Anterior plagiocephaly Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Foot polydactyly Anal stenosis Aplasia/Hypoplasia of the skin Duplication of thumb phalanx Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Hypopigmented skin patches Narrow palpebral fissure Generalized hirsutism Cutaneous syndactyly of toes Abnormality of thumb phalanx Broad thumb Malabsorption Fine hair Small nail Eczema Nail dysplasia Decreased antibody level in blood Asthma Nail dystrophy Cognitive impairment Small for gestational age Protruding ear Hyperkeratosis Babinski sign Areflexia Delayed speech and language development Flexion contracture Horizontal nystagmus Abnormality of the skin Chronic diarrhea Cerebellar atrophy Basal ganglia calcification Decreased nerve conduction velocity Abnormality of the cardiovascular system Pigmentary retinopathy Retinal degeneration Severe short stature Intellectual disability, severe Increased cellular sensitivity to UV light Sensorineural hearing impairment Freckles in sun-exposed areas Entropion Keratitis Ectropion Conjunctivitis Abnormal CNS myelination Skin rash Intestinal malrotation Ptosis Hirsutism Polymicrogyria Toe syndactyly Finger syndactyly Blepharophimosis Craniosynostosis Numerous pigmented freckles Confusion Abnormality of amino acid metabolism Arteriosclerosis Demyelinating peripheral neuropathy Prematurely aged appearance Urticaria Cachexia Diplopia Abnormality of the face Increased bone mineral density Down-sloping shoulders Postaxial polydactyly Short ribs Spina bifida Bradycardia Hemiparesis Hypotension Palmoplantar keratoderma Arachnodactyly Hypogonadotrophic hypogonadism Carious teeth Hypotrichosis Papule Facial palsy Cleft lip Proteinuria Muscle stiffness Hemivertebrae Mandibular prognathia Agenesis of permanent teeth Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Long fingers Spina bifida occulta Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Coarse facial features Proptosis Macular degeneration Keratoconjunctivitis sicca Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair IgG deficiency Alopecia of scalp Hyperactive deep tendon reflexes Congenital ichthyosiform erythroderma Trichorrhexis nodosa Decreased fertility Spastic diplegia Intestinal obstruction Erythroderma Abnormality of the thorax Brittle hair Dysphonia Corneal neovascularization Titubation Glaucoma Motor delay Abdominal pain Visual loss Abnormality of the dentition Abnormality of the skeletal system Wide nasal bridge Brachydactyly Cryptorchidism Abnormality of hair texture Pain Cleft palate Micrognathia Scoliosis Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Recurrent abscess formation


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