Optic atrophy, and Delayed puberty

Diseases related with Optic atrophy and Delayed puberty

In the following list you will find some of the most common rare diseases related to Optic atrophy and Delayed puberty that can help you solving undiagnosed cases.


Top matches:

High match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

High match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

High match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

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Other less relevant matches:

High match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

High match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

High match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

High match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

High match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

High match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

High match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Top 5 symptoms//phenotypes associated to Optic atrophy and Delayed puberty

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cerebral cortical atrophy Short stature Glaucoma Ataxia Spasticity Hypogonadism Scoliosis Deeply set eye Visual impairment Sensorineural hearing impairment Hearing impairment Anxiety Diabetes insipidus Diabetes mellitus Cerebellar atrophy Dementia Visual loss Growth delay Short nose Hallucinations Hypoplasia of the corpus callosum Hypogonadotrophic hypogonadism Sleep disturbance Cataract Behavioral abnormality Hyperreflexia Myopia Developmental regression

Rare Symptoms - Less than 30% cases


Confusion Abnormal cerebellum morphology Joint stiffness Congenital cataract Gait ataxia Cardiomyopathy Dysarthria Central diabetes insipidus Male hypogonadism Severe postnatal growth retardation Severe vision loss Generalized hypotonia Micrognathia Constipation Macrotia Microcephaly Muscular hypotonia Cryptorchidism Muscular hypotonia of the trunk Microphthalmia Anemia Retinal degeneration Nephropathy Postnatal growth retardation Delayed skeletal maturation Blindness Neoplasm Anteverted nares Frontal bossing Intellectual disability, severe Kyphosis Babinski sign Peripheral axonal neuropathy CNS hypomyelination Dysmetria Hypothyroidism Postural tremor Drooling Delayed eruption of teeth Hypodontia Autism Dystonia Retinopathy Intention tremor Dysphagia Ophthalmoplegia Type II diabetes mellitus Psychosis Oligodontia Progressive cerebellar ataxia Myopathy Respiratory insufficiency Progressive hearing impairment Leukodystrophy Abnormality of the foot Long face Increased serum lactate Aciduria Hip dysplasia Esotropia Distal amyotrophy Inability to walk Venous insufficiency Aplasia/Hypoplasia of the lens Absence seizures Abnormality of the diencephalon Low-set, posteriorly rotated ears Hydronephrosis Abnormal vitreous humor morphology Narrow mouth Corneal degeneration Micropenis Brachycephaly Retinopathy of prematurity Optic nerve hypoplasia Intrauterine growth retardation Wide nasal bridge High palate Flexion contracture Ptosis Abnormal cochlea morphology Abnormality of mitochondrial metabolism Pectus carinatum Abnormality of the skeletal system Hypertrophic cardiomyopathy Abnormality of the urinary system Enlarged pituitary gland Progressive visual field defects Craniopharyngioma Abnormal visual field test Intracranial cystic lesion Neoplasm of the anterior pituitary Abnormal hypothalamus morphology Abnormality of the nasal bone Abnormality of the frontal bone Feeding difficulties in infancy Malabsorption Gastrointestinal hemorrhage Recurrent urinary tract infections Abnormal autonomic nervous system physiology Polydipsia High forehead Anterior chamber synechiae Dysuria Central apnea Gastric ulcer Abnormality of mesentery morphology Neoplasm of the eye Abnormal facial shape Feeding difficulties Delayed speech and language development Polymicrogyria Absent speech Uterine rupture Upslanted palpebral fissure Mandibular prognathia Short philtrum Cerebellar vermis hypoplasia Hirsutism Migraine Intellectual disability, progressive Opacification of the corneal stroma Clonus Stereotypy Intellectual disability, profound Hypotelorism Retinal detachment Ectopia lentis Thin vermilion border Corneal opacity Attention deficit hyperactivity disorder Shallow anterior chamber Protruding ear Irritability Abnormality of the eye Cachexia Exudative vitreoretinopathy Bitemporal hemianopia Sclerocornea Abnormal pupil morphology Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Retinoblastoma Vitreoretinopathy Abnormality of the vasculature Remnants of the hyaloid vascular system Hypoplasia of the iris Abnormality of immune system physiology Narrow nasal bridge Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Retinal fold Self-injurious behavior Abnormal chorioretinal morphology Leukocoria Microcornea Cerebral visual impairment Spastic diplegia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Generalized hirsutism Low anterior hairline Abnormality of retinal pigmentation Cortical dysplasia Postnatal microcephaly Pachygyria Anterior synechiae of the anterior chamber Spastic tetraplegia Hypoplasia of penis Decreased testicular size Tetraplegia Decreased muscle mass Cerebellar vermis atrophy Erectile abnormalities Phthisis bulbi Aggressive behavior Abnormality of the nervous system EEG abnormality Myoclonus Malar flattening Hypertonia Muscle weakness Failure to thrive Abnormality of visual evoked potentials Frontoparietal polymicrogyria Hypoplastic labia minora Posterior synechiae of the anterior chamber Clitoral hypoplasia Upper limb spasticity Abnormal localization of kidney Retinal coloboma Slow decrease in visual acuity Renal amyloidosis Sudden loss of visual acuity Hypertelorism Proptosis Reduced visual acuity Rod-cone dystrophy Pneumonia Respiratory distress Downslanted palpebral fissures Abnormal upper motor neuron morphology Photophobia Hypometric saccades Foam cells Motor deterioration Natal tooth Focal impaired awareness seizure Dysdiadochokinesis Reduced number of teeth Skeletal dysplasia Telecanthus Peripheral demyelination Rhizomelia Mild short stature Metaphyseal irregularity Neonatal respiratory distress Epiphyseal dysplasia Coxa vara Recurrent pneumonia Short ribs Bowing of the long bones Nyctalopia Abnormality of the metaphysis Limb undergrowth Pigmentary retinopathy Progressive visual loss Retinal dystrophy Astigmatism Platyspondyly High myopia Focal-onset seizure Thoracic hypoplasia Vertical supranuclear gaze palsy Depressivity High myoinositol in brain by MRS Focal seizures, afebril Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Positive Romberg sign Pallor Abnormality of the basal ganglia Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Clumsiness Cerebellar hypoplasia Intellectual disability, mild Abnormality of the pinna Autistic behavior Abnormal pyramidal sign Primary gonadal insufficiency Mental deterioration Abnormality of the dentition Ventriculomegaly Tremor Motor delay Cognitive impairment Moderate hearing impairment Abnormality of the upper urinary tract Bilateral sensorineural hearing impairment Gastrointestinal dysmotility Optic neuropathy Scotoma Abnormality of color vision Glucose intolerance Congenital sensorineural hearing impairment Schizophrenia Short femoral neck Metaphyseal dysplasia Central adrenal insufficiency Recurrent infections Vertigo Nausea and vomiting Lethargy Hypoglycemia Arrhythmia Obesity Headache Coma Vomiting Hydrocephalus Fatigue Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Nausea Hypotension Uveitis Orthostatic hypotension Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Proportionate short stature Hypopituitarism Polyphagia Amenorrhea Impotence Increased susceptibility to fractures Increased intracranial pressure Sleep apnea Increased body weight Myocardial infarction Cerebral calcification Broad foot Progressive sensorineural hearing impairment Bronchitis Aplasia/hypoplasia of the extremities Fever Hepatomegaly Irregular iliac crest Enchondroma Proximal femoral metaphyseal irregularity Cupped ribs Narrow greater sacrosciatic notches Splenomegaly Prominent sternum Anterior rib cupping Spondylometaphyseal dysplasia Thoracic dysplasia Ovoid vertebral bodies Thoracic kyphosis Bell-shaped thorax Macrocephaly Abnormality of metabolism/homeostasis Elevated erythrocyte sedimentation rate Abnormality of the genital system Restrictive ventilatory defect Abnormality of the voice Urticaria Abnormal palate morphology Cranial nerve paralysis Conjunctivitis Vasculitis Nephrotic syndrome Pes cavus Ichthyosis Skin rash Camptodactyly of finger Arthritis Myalgia Arthralgia Abdominal pain Vascular neoplasm



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