Micrognathia, and Basal cell carcinoma

Diseases related with Micrognathia and Basal cell carcinoma

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

Top matches:

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

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

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

Other less relevant matches:

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Squamous cell carcinoma Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Neoplasm Growth delay Microphthalmia Hypopigmentation of the skin Sparse hair Abnormality of the skeletal system Scoliosis Strabismus Cutaneous photosensitivity Hypogonadism Neoplasm of the skin Skin tags Hamartomatous polyposis Epicanthus Abnormality of the cardiovascular system Pectus excavatum Alopecia Telangiectasia Carcinoma Dermal atrophy Freckling Myopia Anemia Cryptorchidism High palate

Rare Symptoms - Less than 30% cases

Wide nasal bridge Macrocephaly Seizures Cutaneous melanoma Hypertelorism Ataxia Intellectual disability, mild Kyphosis Narrow mouth Hypothyroidism Hypoplasia of the maxilla Intention tremor Downslanted palpebral fissures Short ribs Brachycephaly Pneumonia Severe short stature Thrombocytopenia Short neck Progeroid facial appearance Fine hair Decreased antibody level in blood Dry skin Malabsorption Photophobia Recurrent infections Retrognathia Cognitive impairment Fragile nails Abnormality of the sternum Abnormal facial shape Breast carcinoma Hyperpigmentation of the skin Low-set, posteriorly rotated ears Cafe-au-lait spot Hypotrichosis EEG abnormality Gynecomastia Abnormality of the ribs Palmoplantar hyperkeratosis Mandibular prognathia Progressive macrocephaly Transitional cell carcinoma of the bladder Flexion contracture Fibroadenoma of the breast Skeletal dysplasia Goiter Kyphoscoliosis Small hand Short palpebral fissure Hyperkeratosis Glaucoma Short palm Hypertension Diarrhea Small for gestational age Nail dystrophy Frontal bossing Varicocele Microcornea Short thumb Colonic diverticula Hyperthyroidism Poikiloderma Thyroiditis Absent radius Hashimoto thyroiditis Meningioma Hydrocele testis Furrowed tongue Cleft palate Absent thumb Agenesis of permanent teeth Subcutaneous lipoma Ovarian cyst Angioid streaks of the fundus Sensorineural hearing impairment Thyroid adenoma Limited elbow extension Portal hypertension Metaphyseal widening Basal ganglia calcification Cone-shaped epiphysis Upper limb undergrowth Short thorax Overweight Thrombocytosis Mesomelia Exocrine pancreatic insufficiency Femoral bowing Decreased nerve conduction velocity Hodgkin lymphoma Pigmentary retinopathy Tibial bowing Distal arthrogryposis Heart block Abnormality of the hip bone High hypermetropia Esophageal atresia Hypoplasia of the odontoid process Metaphyseal dysplasia Abnormality of pelvic girdle bone morphology Anal stenosis Macrocytic anemia Genu varum Rhizomelia Disproportionate short-limb short stature Abnormal CNS myelination Lumbar hyperlordosis Convex nasal ridge Gastrointestinal hemorrhage Lymphoma Postural instability Neutropenia Joint hypermobility Depressed nasal ridge Micromelia Joint hyperflexibility Narrow chest Arthrogryposis multiplex congenita Leukemia Pectus carinatum Abnormal cardiac septum morphology Blue sclerae Abnormality of the metaphysis Sacral dimple Lymphopenia Reduced tendon reflexes Abnormal palate morphology Squamous cell carcinoma of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Sparse and thin eyebrow Abnormal form of the vertebral bodies Gingival overgrowth Abnormality of retinal pigmentation Tracheal stenosis Abnormality of epiphysis morphology Bronchiectasis Aganglionic megacolon Bowing of the long bones Fair hair Mucopolysacchariduria Generalized joint laxity Triangular face Neoplasm of the lung Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Low posterior hairline Specific learning disability High, narrow palate Axillary freckling Abnormality of skin pigmentation Optic atrophy Attention deficit hyperactivity disorder Hyperactivity Ventriculomegaly Ptosis Intellectual disability, severe Lisch nodules Abnormality of the kidney Generalized hypotonia Squamous cell carcinoma of the tongue Freckles in sun-exposed areas Entropion Keratitis Ectropion Melanoma Conjunctivitis Pelvic kidney Blepharophimosis Vitiligo Hypoplasia of the radius Horseshoe kidney Bone marrow hypocellularity Hyperreflexia Pancytopenia Bulbous nose Cerebellar atrophy Pulmonary lymphoma B-cell lymphoma Bronchiolitis Spinal dysraphism Large face Hypersplenism Normocytic anemia Abnormal diaphysis morphology Diaphyseal thickening Abnormality of chromosome stability Neonatal short-limb short stature Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia Congenital hypoplastic anemia Abnormal bone ossification Susceptibility to chickenpox Metaphyseal dysostosis Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Non-Hodgkin lymphoma Abnormally ossified vertebrae Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Retinopathy Hypoplastic anemia Retinal degeneration Hyperlordosis Intestinal obstruction Joint laxity Telecanthus Oral cleft Cleft upper lip Arachnodactyly Carious teeth Papule Coloboma Facial palsy Cleft lip Proteinuria Postaxial polydactyly Coarse facial features Proptosis Polydactyly Abdominal pain Visual loss Syndactyly Abnormality of the dentition Hydrocephalus Iris coloboma Palmoplantar keratoderma Dysarthria Spina bifida occulta Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Hemivertebrae Nevus Hypogonadotrophic hypogonadism Muscle stiffness Spina bifida Bradycardia Exotropia Hemiparesis Cerebral calcification Hypotension Brachydactyly Motor delay Colitis Anal atresia Sarcoma Congenital hip dislocation Microdontia Growth hormone deficiency Hypodontia Delayed eruption of teeth Short foot Flat face Hip dislocation Premature graying of hair Corneal opacity Skin rash Erythema Osteoporosis Short nose Vomiting Talipes equinovarus Feeding difficulties Pyloric stenosis Skin vesicle Spasticity Aplasia/Hypoplasia of the patella Pain Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Skin erosion Increased number of teeth Acantholysis Patellar aplasia Rectovaginal fistula Concave nasal ridge Osteosarcoma Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Vertebral fusion Thoracic scoliosis Macrotia Spastic diplegia Pili torti Woolly hair IgG deficiency Alopecia of scalp Hyperactive deep tendon reflexes Keratoconjunctivitis sicca Congenital ichthyosiform erythroderma Decreased fertility Erythroderma Corneal neovascularization Abnormality of the thorax Brittle hair Dysphonia Macular degeneration Increased bone mineral density Chronic diarrhea Abnormality of the face Small nail Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Nail dysplasia Anteverted nares Prominent forehead Constipation Delayed skeletal maturation Dilatation Immunodeficiency Splenomegaly Cardiomyopathy Respiratory insufficiency Hepatomegaly Titubation Depressed nasal bridge Visual impairment Muscular hypotonia Failure to thrive Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Abnormality of hair texture Eczema Asthma Sprengel anomaly Medulloblastoma Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Cervical ribs Supernumerary ribs Ectopic calcification Astrocytoma Severe hydrocephalus Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Narrow nose Multiple impacted teeth Short distal phalanx of the thumb Ichthyosis Cardiac fibroma Protruding ear Babinski sign Areflexia Delayed speech and language development Nystagmus Global developmental delay Hamartomatous stomach polyps Irregular ossification of hand bones Bridged sella turcica Palmar pits Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Increased cellular sensitivity to UV light


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