Pain, and Hypotelorism

Diseases related with Pain and Hypotelorism

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


Top matches:

Medium match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Medium match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Medium match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

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Other less relevant matches:

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Medium match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

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

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Low match COFFIN-SIRIS SYNDROME 1; CSS1


Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Pain and Hypotelorism

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Hypotelorism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Hearing impairment Scoliosis Growth delay Generalized hypotonia Microcephaly High palate Abnormal facial shape Deeply set eye Anemia Delayed speech and language development Inability to walk Pes cavus Hypoplasia of the corpus callosum Hyporeflexia Aggressive behavior Depressivity Myalgia Depressed nasal bridge Cleft palate Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Epicanthus Low-set ears Ptosis Neoplasm Behavioral abnormality Osteopenia Vomiting Retinopathy Thick eyebrow Mitochondrial myopathy Respiratory distress Migraine Bruising susceptibility Neurological speech impairment Skin rash Elevated alkaline phosphatase Elevated serum creatine phosphokinase Thrombocytopenia Dilatation Headache Abnormality of the skeletal system Wide nasal bridge Edema Feeding difficulties Autistic behavior Autism Gait ataxia Hyperactivity Cerebellar atrophy Eczema Cryptorchidism Hyperreflexia Visual impairment Spasticity Syndactyly Muscular hypotonia Failure to thrive Abdominal pain Postnatal growth retardation Poor coordination Sensory impairment Abnormal heart morphology Micrognathia Brachial plexus neuropathy Myopathy Cataract Anxiety Axonal degeneration Myoclonus Growth hormone deficiency Confusion Respiratory insufficiency Motor delay Recurrent infections Skeletal muscle atrophy Peripheral neuropathy Hoarse voice Tetraparesis Recurrent respiratory infections Tremor Ectopic posterior pituitary Pallor Paresthesia Abnormality of movement Paralysis Anterior pituitary hypoplasia Weight loss Coarse facial features Umbilical hernia Hypoglycemia Cirrhosis Agenesis of corpus callosum Inguinal hernia Hydronephrosis Thin upper lip vermilion Joint laxity Low-set, posteriorly rotated ears Posteriorly rotated ears Hypercoagulability Feeding difficulties in infancy Severe global developmental delay Nausea and vomiting Bulbous nose Astigmatism Vertigo Synophrys Lymphadenopathy Hypotrichosis Short philtrum Speech articulation difficulties Wide mouth Respiratory failure Respiratory tract infection Abnormality of the pinna Visual loss Thick hair Immunodeficiency Patent ductus arteriosus Hypospadias Clinodactyly Leukocytosis Hypertelorism Abnormal neutrophil count Myelodysplasia Macronodular cirrhosis Erysipelas Granulocytopenia Chronic otitis media Myeloproliferative disorder Short distal phalanx of finger Strabismus Prolonged bleeding time Sensorineural hearing impairment Abnormality of the optic nerve Verrucae Cellulitis Myeloid leukemia Acute myeloid leukemia Fever Acute leukemia Nystagmus Leukemia Hepatomegaly Pancytopenia Hernia Enlarged interhemispheric fissure Splenomegaly Hemolytic anemia Hematuria Tapered finger Webbed neck Kyphosis Lymphedema Brachydactyly Atrial septal defect Hydrocephalus Ventricular septal defect Bone marrow hypocellularity Downslanted palpebral fissures Macrocephaly Leukopenia Intracranial hemorrhage Myopia Scarring Long eyelashes Wide nose Anteverted nares Nausea Dry skin Abnormality of the cerebral white matter Pruritus Attention deficit hyperactivity disorder Abnormality of the liver Irritability Abnormality of cardiovascular system morphology Hypertonia Cognitive impairment Delayed myelination Short distal phalanx of the 5th toe Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Prominent interphalangeal joints Severe expressive language delay Premature thelarche Facial hypertrichosis Intussusception Asthma Cerebral calcification Hepatoblastoma Abnormal posturing Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Generalized hypopigmentation Coarctation of aorta Fair hair Blue irides Self-mutilation Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Duodenal ulcer Gastric ulcer Hirsutism Small nail Horseshoe kidney Increased body weight Low anterior hairline Preauricular skin tag Tall stature Choanal atresia Sparse scalp hair Hypertrichosis Thick lower lip vermilion Cerebellar vermis hypoplasia Coxa valga Renal hypoplasia Decreased fetal movement Congenital diaphragmatic hernia Tetralogy of Fallot Dandy-Walker malformation Intestinal malrotation Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Thick vermilion border Generalized hirsutism Accelerated skeletal maturation Generalized hypertrichosis Tics Hypotrichosis of the scalp Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Rectal prolapse Aplasia of the uterus Short sternum Neoplasm of the liver Recurrent hypoglycemia Enlarged cisterna magna Spina bifida occulta Short 5th finger Dislocated radial head Abnormality of digit Partial agenesis of the corpus callosum Ectopic kidney Anonychia Cutis marmorata Precocious puberty Hemangioma Sacral dimple Prolactin excess Ulnar deviation of the hand Hyperthyroidism Stroke-like episode Flexion contracture Congenital miosis Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Increased muscle fatiguability Miosis Abnormal thrombocyte morphology Dyslexia Upslanted palpebral fissure Asplenia Subarachnoid hemorrhage Abnormality of the musculature Abnormality of coagulation Purpura Hypocalcemia Epistaxis Prominent nose Abnormal bleeding Hyperhidrosis Narrow mouth Limb muscle weakness Dysesthesia Cerebral atrophy Blindness Intellectual disability, severe Ventriculomegaly Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Weak voice Chronic pain Rigidity Facial paralysis Scapular winging Narrow palpebral fissure Narrow face Bifid uvula Postural instability Facial asymmetry Finger syndactyly Blepharophimosis Ichthyosis Stroke Encephalopathy Bilateral cryptorchidism Areflexia Bilateral postaxial polydactyly Microphallus Adrenocorticotropic hormone deficiency Panhypopituitarism Poor appetite Hypopituitarism High pitched voice Diabetes insipidus Holoprosencephaly Sensory neuropathy Depressed nasal ridge Postaxial polydactyly Oral cleft Cleft upper lip Cleft lip Micropenis Polydactyly Hypogonadism Midface retrusion Abnormality of the nervous system Polyneuropathy Proximal muscle weakness Hodgkin lymphoma High forehead Severe short stature Myelin tomacula Segmental peripheral demyelination/remyelination Vocal cord paresis Abnormal myelination Low back pain Constrictive median neuropathy Vocal cord paralysis Axonal loss Muscle cramps Decreased motor nerve conduction velocity Hammertoe Abnormality of the voice Back pain Cranial nerve paralysis Foot dorsiflexor weakness Peripheral demyelination Lymphoma Generalized muscle weakness Absent speech Constipation Multiple lipomas Ankle swelling Intellectual disability, mild Ataxia Osteolysis involving tarsal bones Wrist swelling Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Doll-like facies Hypertensive retinopathy Cerebellar hypoplasia Azotemia Ulnar deviation of the hand or of fingers of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Rheumatoid arthritis Cachexia Osteolysis EMG abnormality Pectus excavatum Mandibular prognathia Interphalangeal joint contracture of finger Intention tremor Myopathic facies Increased variability in muscle fiber diameter Gowers sign Dysdiadochokinesis Schizophrenia Truncal ataxia Limb ataxia Frequent falls Primary amenorrhea Pigmentary retinopathy Kyphoscoliosis Amenorrhea Small hand Distal sensory impairment Distal amyotrophy Falls Long face Dysmetria Distal muscle weakness Difficulty walking Abnormality of epiphysis morphology Limitation of joint mobility EEG abnormality Generalized-onset seizure Self-injurious behavior Focal impaired awareness seizure Spastic tetraparesis Progressive microcephaly Cerebral visual impairment Involuntary movements Status epilepticus Hypsarrhythmia Spastic tetraplegia Epileptic encephalopathy Disproportionate tall stature Febrile seizures Chorea Tetraplegia Dyskinesia Joint hypermobility Abnormality of eye movement Abnormal pyramidal sign Abnormality of the eye Intellectual disability, moderate Global brain atrophy Infantile spasms Triangular face Arthritis Hypoplasia of the maxilla Nephropathy Downturned corners of mouth Stage 5 chronic kidney disease Pulmonic stenosis Corneal opacity Camptodactyly of finger Telecanthus Proteinuria Arthralgia Atonic seizures Polyhydramnios Proptosis Renal insufficiency Gait disturbance Hypertension Inappropriate crying Oculogyric crisis Profound global developmental delay Bruxism Maternal hyperphenylalaninemia



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 Hydrocephalus and Telangiectasia, related diseases and genetic alterations Myopathy and Camptodactyly, related diseases and genetic alterations High palate and Hepatic steatosis, related diseases and genetic alterations Spasticity and Inflammation of the large intestine, related diseases and genetic alterations Spasticity and Thrombocytopenia, related diseases and genetic alterations Anemia and Intellectual disability, severe, related diseases and genetic alterations

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