Abnormal facial shape, and Pallor

Diseases related with Abnormal facial shape and Pallor

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Pallor that can help you solving undiagnosed cases.


Top matches:

Medium match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Medium match LEIGH SYNDROME; LS


Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

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Other less relevant matches:

Medium match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Medium match AMISH INFANTILE EPILEPSY SYNDROME


Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Medium match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Pallor

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Visual impairment Optic atrophy Optic nerve hypoplasia High palate Hearing impairment Scoliosis Muscular hypotonia of the trunk Hypertonia Absent speech Cerebellar hypoplasia Gait ataxia Hyperreflexia Neoplasm Dysmetria Ataxia Muscular hypotonia Encephalopathy Difficulty walking Pain Pigmentary retinopathy Optic disc pallor Truncal ataxia Short stature Muscle weakness Inability to walk Failure to thrive Spasticity Vomiting Anemia Dysphagia

Rare Symptoms - Less than 30% cases


Status epilepticus Retinopathy Ventricular septal defect Coarse facial features Dysdiadochokinesis Falls Developmental regression Hypothyroidism Agenesis of corpus callosum Sensory impairment Sarcoma Generalized tonic-clonic seizures Motor delay Abnormality of eye movement Hypertrophic cardiomyopathy Intellectual disability, severe Strabismus Sensorineural hearing impairment Kyphoscoliosis Abdominal distention Generalized-onset seizure Ptosis Dysarthria Abnormality of the liver Nausea and vomiting Gait disturbance Respiratory insufficiency Cardiomyopathy Dystonia Cerebral atrophy Skin rash Lactic acidosis Neurodegeneration Pes cavus Progressive neurologic deterioration Limb ataxia Asymmetric septal hypertrophy Mandibular prognathia Cerebral cortical atrophy Fatigue Visual loss Incoordination Feeding difficulties Delayed speech and language development Constipation Epicanthus Growth delay Tremor Cerebellar atrophy Abnormal cerebellum morphology Hypertelorism Acidosis Metabolic acidosis Increased serum lactate Reduced visual acuity Rigidity Depressivity Peripheral demyelination Hypermelanotic macule Fever Micrognathia Diabetes mellitus Long philtrum Intention tremor Diabetic ketoacidosis Decreased sensory nerve conduction velocity Incomprehensible speech Concentric hypertrophic cardiomyopathy Abolished vibration sense Autoimmunity Photophobia Hypogonadism Rod-cone dystrophy Alopecia Diarrhea Cataract Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Spinal cord posterior columns myelin loss Cerebellar cortical atrophy Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Upper limb amyotrophy Reduced systolic function Reduced tendon reflexes Hand muscle atrophy Involuntary movements Optic neuropathy Ventricular hypertrophy Hyperactive deep tendon reflexes Atrial fibrillation Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Palpitations Sensory axonal neuropathy Clumsiness Left ventricular hypertrophy Abnormal EKG Lower limb spasticity Spastic gait Insulin resistance Muscle stiffness Paraparesis Spastic paraparesis Hammertoe Impaired vibratory sensation Cachexia Slurred speech Thoracic scoliosis Abnormality of visual evoked potentials Sinus tachycardia Impaired proprioception Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination Tachycardia Sensory neuropathy T-wave inversion Ventricular arrhythmia Gait imbalance Heart block Progressive cerebellar ataxia Chest pain Chorea Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Ketosis Subvalvular aortic stenosis Asplenia Hypotrichosis Neurological speech impairment Bowing of the long bones Cholestasis Intellectual disability, profound Postaxial hand polydactyly Aciduria Short foot Polymicrogyria Hepatic failure Micromelia Joint stiffness Hyperbilirubinemia Skeletal dysplasia Polyhydramnios Anteverted nares Ventriculomegaly Frontal bossing Macrocephaly Brachydactyly Depressed nasal bridge Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Short toe Aminoaciduria Chronic active hepatitis Short tibia Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Enterocolitis Organic aciduria Synostosis of carpal bones Lissencephaly Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Tarsal synostosis Reduced subcutaneous adipose tissue Abnormality of the coagulation cascade Hypoplasia of the brainstem Relative macrocephaly Disproportionate short-limb short stature Hyperammonemia Salt craving Chronic atrophic gastritis Malabsorption Hypergonadotropic hypogonadism Adrenal insufficiency Diabetes insipidus Constriction of peripheral visual field Cholelithiasis Hypopigmented skin patches Opacification of the corneal stroma Abnormality of the fingernails Type I diabetes mellitus Hypocalcemia Sinusitis Macular atrophy Chronic diarrhea Hypoplasia of dental enamel Hepatitis Dehydration Cerebral calcification Hypotension Otitis media Decreased antibody level in blood Muscle cramps Nausea Abnormality of the thyroid gland Metaphyseal dysplasia Abnormality of calcium-phosphate metabolism Tetany Female hypogonadism Chronic hepatitis Alopecia areata Keratoconjunctivitis Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Achalasia Thyroiditis Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Vertigo Antinuclear antibody positivity Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Hypoparathyroidism Vitiligo Primary adrenal insufficiency Peripheral axonal neuropathy Enlarged interhemispheric fissure Unsteady gait CNS demyelination Wide nasal bridge Cleft palate Episodic metabolic acidosis Mitochondrial respiratory chain defects Hepatocellular necrosis Decreased activity of the pyruvate dehydrogenase complex Respiratory arrest Abnormal pattern of respiration Increased CSF lactate Short nose Emotional lability Failure to thrive in infancy Leukodystrophy Hypertrichosis Gliosis Ophthalmoplegia Abnormality of the eye Respiratory failure Skeletal muscle atrophy Short neck Micropenis Titubation Progressive microcephaly Hepatomegaly Flexion contracture Macrogyria Oval face Dilated fourth ventricle Overlapping fingers Abnormally large globe Plagiocephaly Hypohidrosis Macrotia Postnatal microcephaly Decreased body weight Hypsarrhythmia Epileptic encephalopathy Broad nasal tip Prominent nasal bridge Coloboma Postnatal growth retardation Intellectual disability, moderate Truncal titubation Broad face Midface retrusion Lipoma Neoplasm of the rectum Neoplasm of the small intestine Mastocytosis Soft tissue sarcoma Leiomyosarcoma Gastrointestinal stroma tumor Schwannoma Paraganglioma Irregular hyperpigmentation Neoplasm of the colon Neurofibromas Large hands Intestinal obstruction Urticaria Eosinophilia Hyperpigmentation of the skin Gastrointestinal hemorrhage Weight loss Abdominal pain Esophageal neoplasm Neoplasm of the stomach Delayed ability to walk Broad-based gait Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Tented upper lip vermilion Finger clinodactyly Horizontal nystagmus Clonus Cyanosis Gastrointestinal obstruction Flat face Thin vermilion border Apnea Brachycephaly Clinodactyly of the 5th finger Clinodactyly Hypoplasia of the corpus callosum Giant hypertrophic gastritis Neoplasm of the gastrointestinal tract Blindness Hernia Lower limb muscle weakness Vesicoureteral reflux Absent thumb Patent foramen ovale Arnold-Chiari malformation Horseshoe kidney Bone marrow hypocellularity Short thumb Renal hypoplasia Growth hormone deficiency Triangular face Duodenal atresia Neutropenia Astigmatism Conductive hearing impairment Patent ductus arteriosus Thrombocytopenia Abnormality of cardiovascular system morphology Microphthalmia Atrial septal defect Intrauterine growth retardation Absent septum pellucidum Short 1st metacarpal Speech articulation difficulties Areflexia Abnormality of movement Abnormality of the foot Limb muscle weakness Dilated cardiomyopathy Abnormal pyramidal sign Pes planus Hyperactivity Babinski sign Arrhythmia Fused cervical vertebrae Kyphosis Congestive heart failure Respiratory distress Talipes equinovarus Peripheral neuropathy Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Myopia Thick hair Myoclonus Loss of consciousness Myopathy Developmental stagnation at onset of seizures Hyporeflexia of upper limbs Multifocal epileptiform discharges Developmental stagnation Abnormal retinal morphology Lower limb hyperreflexia Global brain atrophy Cerebral visual impairment Pectus excavatum Gingival overgrowth Choreoathetosis Tetraparesis Macroglossia Abnormality of skin pigmentation Retinal degeneration Irritability Feeding difficulties in infancy Hepatosplenomegaly Intellectual disability, mild Hyporeflexia Prolactin excess Frequent falls Mitochondrial myopathy Poor coordination Hyperthyroidism Multiple lipomas Myopathic facies Increased variability in muscle fiber diameter Gowers sign Schizophrenia Primary amenorrhea Elevated serum creatine phosphokinase Amenorrhea Small hand Distal sensory impairment Distal amyotrophy Long face Distal muscle weakness Anxiety Myalgia Delayed skeletal maturation Open operculum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Combined immunodeficiency, related diseases and genetic alterations High palate and Constipation, related diseases and genetic alterations Low-set ears and Narrow forehead, related diseases and genetic alterations Flexion contracture and Hip dislocation, related diseases and genetic alterations Muscle weakness and Nephritis, related diseases and genetic alterations

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