Hyperreflexia, and Dolichocephaly

Diseases related with Hyperreflexia and Dolichocephaly

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

Top matches:

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Other less relevant matches:

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dolichocephaly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Dolichocephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Hearing impairment Epicanthus Macrocephaly Scoliosis Low-set ears Coarse facial features Seizures Ventriculomegaly Genu valgum Micrognathia Frontal bossing Cryptorchidism Ptosis Strabismus Short stature Optic atrophy Microcephaly Talipes equinovarus Short neck Cleft palate Conductive hearing impairment Visual impairment Congenital hip dislocation Wide nasal bridge Posteriorly rotated ears Abnormality of the kidney Neoplasm Muscular hypotonia Pes planus Hypospadias Depressed nasal bridge Patent ductus arteriosus Prominent forehead Vesicoureteral reflux Abnormality of the foot Mandibular prognathia Sensorineural hearing impairment Nystagmus Joint laxity Abnormal vertebral morphology Obesity Tapered finger EEG abnormality

Rare Symptoms - Less than 30% cases

Clinodactyly Intellectual disability, severe Short nose Behavioral abnormality Downslanted palpebral fissures Abnormality of the ulna Thickened skin Pneumonia Inguinal hernia U-Shaped upper lip vermilion Hyperactive deep tendon reflexes Radial deviation of finger Intellectual disability, progressive Micropenis Thin upper lip vermilion Respiratory tract infection Wide mouth Wide nose Small nail Macrotia Hepatomegaly Craniosynostosis Severe short stature Sloping forehead Renal agenesis Otitis media Hypermetropia Leukemia Carcinoma Abnormal heart morphology Atrial septal defect Abnormality of blood and blood-forming tissues Widely spaced teeth Narrow face Congestive heart failure Headache Abnormality of the genital system Proptosis Abnormal cardiac septum morphology Umbilical hernia Narrow forehead Macroglossia Thick vermilion border Kyphoscoliosis Hypogonadism Upslanted palpebral fissure Constipation Motor delay Advanced eruption of teeth Precocious puberty Accelerated skeletal maturation Tall stature Astigmatism Growth delay Sacrococcygeal teratoma Muscular hypotonia of the trunk High forehead Delayed speech and language development Retrognathia Abnormality of the skeletal system Hypoplasia of the corpus callosum Failure to thrive Cataract Pes cavus Spasticity Abnormality of retinal pigmentation Hyperactivity Esotropia Aggressive behavior Synophrys Abnormality of the liver High, narrow palate Hip dislocation Hypertonia Long eyelashes Hip dysplasia Thick eyebrow Deep philtrum Weak cry Myopathic facies Elbow flexion contracture Lethargy Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Respiratory distress Abnormality of the acetabulum Ataxia Dermatan sulfate excretion in urine Thickened ribs Fatigue Progressive flexion contractures Functional respiratory abnormality Hydrocephalus Narrow mouth Optic nerve compression Frontal hirsutism Renal insufficiency Centrally nucleated skeletal muscle fibers Small abnormally formed scapulae Abnormality of the breast Abnormality of the glenoid fossa Abnormality of the humeral epiphysis Fasciculations Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Anemia Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Fever Short tubular bones of the hand Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Cervical instability Abnormal metaphyseal trabeculation Abnormality of the sella turcica Intrauterine growth retardation Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Abnormality of the upper limb Hip subluxation Urinary glycosaminoglycan excretion Obstructive sleep apnea Broad ribs Sparse axillary hair Communicating hydrocephalus Hydrocele testis Tracheal stenosis Dysostosis multiplex Hypoplastic iliac wing Diastasis recti Spinal cord compression Chronic sinusitis Papilledema Dilation of lateral ventricles Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Arthropathy Abnormal heart valve morphology Exertional dyspnea Restrictive ventilatory defect Multiple joint contractures Sparse pubic hair Cor pulmonale Delayed menarche Peripheral edema Hernia of the abdominal wall Heparan sulfate excretion in urine Mitral valve calcification J-shaped sella turcica Hyporeflexia Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Internally nucleated skeletal muscle fibers Flared iliac wings Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Abnormal cornea morphology Myelopathy Nasal obstruction Shield chest Sagittal craniosynostosis Microphthalmia Hypothyroidism Abnormality of the preputium Ectopic kidney Duodenal stenosis Duplicated collecting system Meckel diverticulum Absent thumb Low-grade fever Hydroureter Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Abnormality of nervous system morphology Squamous cell carcinoma Chromosomal breakage induced by crosslinking agents Hypoplasia of the ulna Glucose intolerance Hypoplastic anemia Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of dental morphology Primary hypothyroidism Abnormal aortic morphology Reduced bone mineral density Arteriovenous malformation Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal eyelid morphology Myeloid leukemia Chromosome breakage Abnormal localization of kidney Hearing abnormality External ear malformation Abnormality of chromosome stability Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Reticulocytopenia Absent radius Acute myeloid leukemia Multiple cafe-au-lait spots Abnormality of vision Hypopigmented skin patches Pyridoxine-responsive sideroblastic anemia Finger syndactyly Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Aplasia/Hypoplasia of the uvula Abnormality of skin pigmentation Vertigo Anal atresia Facial asymmetry Toe syndactyly Small for gestational age Oligohydramnios Postnatal growth retardation Irritability Abnormality of the eye Hypertrophic cardiomyopathy B-cell lymphoma Weight loss Diabetes mellitus Clinodactyly of the 5th finger Aplasia/Hypoplasia of fingers Thrombocytopenia Abnormality of cardiovascular system morphology Tetralogy of Fallot Pancytopenia Renal hypoplasia/aplasia Hypergonadotropic hypogonadism Cranial nerve paralysis Absent testis Compensated hypothyroidism Azoospermia Leukopenia Almond-shaped palpebral fissure Type I diabetes mellitus Abnormal carotid artery morphology Horseshoe kidney Bone marrow hypocellularity Spina bifida Short palpebral fissure Prolonged G2 phase of cell cycle Insulin resistance Anemic pallor Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Deficient excision of UV-induced pyrimidine dimers in DNA Aganglionic megacolon Neoplasm of head and neck Choanal atresia Toe walking Abnormality of the cerebral ventricles Heart murmur Aplasia/Hypoplasia of the corpus callosum Midface retrusion Malar flattening Vomiting Brachydactyly Neoplasm of the nervous system Renal duplication Multiple renal cysts Abnormality of the ureter Abnormality of immune system physiology Genu varum Abnormality of the fingernails Cerebral cortical atrophy Depressed nasal ridge Feeding difficulties in infancy Hypoglycemia Facial capillary hemangioma Abnormality of the rib cage Thickened nuchal skin fold Scaphocephaly Broad palm Short finger Recurrent upper respiratory tract infections Delayed skeletal maturation Gastroesophageal reflux Broad thumb Infantile muscular hypotonia Asplenia Facial hypotonia Protruding tongue Slender finger External genital hypoplasia Mild short stature Bilateral cryptorchidism Encephalitis Tented upper lip vermilion Scrotal hypoplasia Drooling Telecanthus Increased body weight Exotropia Open mouth Thick lower lip vermilion Renal hypoplasia Decreased testicular size Paraplegia Nail dystrophy Spastic paraplegia Microtia Multicystic kidney dysplasia Wide intermamillary distance Short upper lip Decreased muscle mass Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Retinal dystrophy Abnormality of movement Severe global developmental delay Developmental regression Low-set, posteriorly rotated ears Abnormality of metabolism/homeostasis Delayed ability to walk Progressive microcephaly Abnormality of neuronal migration Postnatal microcephaly Hypsarrhythmia Prominent nose Brain atrophy Highly arched eyebrow Bulbous nose Long face Unsteady gait Talipes Babinski sign Abnormal palate morphology Adrenal insufficiency Single transverse palmar crease Trigonocephaly Nonketotic hyperglycinemia Fetal distress Hyperglycinemia Exaggerated startle response Hand clenching Genu recurvatum Hip contracture Overlapping toe Oral-pharyngeal dysphagia Sparse eyebrow Clonus Primary adrenal insufficiency Arthrogryposis multiplex congenita Broad forehead Apnea Respiratory failure Encephalopathy Dysphagia Hypertension Flexion contracture Elevated long chain fatty acids Polar cataract Lower limb hypertonia Bilateral renal hypoplasia Chronic otitis media Hepatosplenomegaly Lower limb muscle weakness Limb muscle weakness Carious teeth Platyspondyly Corneal opacity Pectus carinatum Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Joint stiffness Arthralgia Hirsutism Skeletal dysplasia Osteopenia Hyperkeratosis Glaucoma Abdominal pain Recurrent respiratory infections Hernia Kyphosis Splenomegaly Intellectual disability, mild Retinal degeneration Sleep disturbance Diarrhea Generalized hirsutism Back pain Coarse hair Easy fatigability Increased intracranial pressure Arnold-Chiari malformation Abnormality of the metacarpal bones Opacification of the corneal stroma Abnormality of dental enamel Coxa valga Knee flexion contracture Short ribs Asthma Aortic valve stenosis Lower limb spasticity Abnormal form of the vertebral bodies Recurrent otitis media Lumbar hyperlordosis Abnormality of the ribs Cardiomegaly Microdontia Progressive visual loss Limitation of joint mobility Abnormality of the dentition Cardiomyopathy Talipes calcaneovalgus Hypodontia Cutis laxa Abnormal dermatoglyphics Narrow palate Pointed chin Lymphedema Hypoplasia of dental enamel Heterotopia Clumsiness Apraxia Overgrowth Joint hypermobility Redundant skin Neonatal hypotonia Jaundice Ventricular septal defect Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Reduced number of teeth Nephroblastoma Respiratory insufficiency Periventricular leukomalacia Gait disturbance Cognitive impairment Small cell lung carcinoma Gray matter heterotopias Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Oxycephaly Large hands Cavum septum pellucidum Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Frog-leg posture


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