Optic atrophy, and Small hand

Diseases related with Optic atrophy and Small hand

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


Top matches:

High match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

High match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

High match BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME


ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

High match ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME


Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

High match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

High match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1


Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

High match CRI-DU-CHAT SYNDROME


Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

High match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

High match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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

Top 5 symptoms//phenotypes associated to Optic atrophy and Small hand

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Small hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Single transverse palmar crease Muscular hypotonia Nystagmus Abnormal facial shape High palate Depressed nasal bridge Delayed speech and language development Respiratory distress Micrognathia Feeding difficulties Short metatarsal Autism Macrocephaly Downslanted palpebral fissures Intellectual disability, severe Small for gestational age Mandibular prognathia Cryptorchidism Epicanthus Myopia Postnatal growth retardation Ptosis Hypertension Ventricular septal defect Tremor Motor delay Aspiration Wide nasal bridge Difficulty walking Cleft palate Intrauterine growth retardation Hernia Retinopathy Prominent nasal bridge Cerebral visual impairment Severe global developmental delay Kyphosis High, narrow palate Dental malocclusion Weak cry Joint hypermobility Smooth philtrum Short philtrum Hypospadias Otitis media Short metacarpal Cerebellar hypoplasia Prominent forehead Thin upper lip vermilion Respiratory tract infection Gastroesophageal reflux Delayed myelination Thick eyebrow Hydrocephalus Anteverted nares Hepatomegaly Visual impairment Flexion contracture Narrow forehead Thin vermilion border EEG abnormality Long face Facial asymmetry Brachycephaly Delayed skeletal maturation Syndactyly Long philtrum Short neck Recurrent infections Dysmetria

Rare Symptoms - Less than 30% cases


Cataract Patent ductus arteriosus Poor suck Venous thrombosis Truncal ataxia Intention tremor Pes planus Retrognathia Short palm Neonatal hypotonia High myopia Synophrys Camptodactyly Gait ataxia Elevated serum creatine phosphokinase Pigmentary retinopathy Finger syndactyly Myopathy Wide mouth Edema Anxiety Aggressive behavior Intellectual disability, moderate Astigmatism Ataxia Highly arched eyebrow Feeding difficulties in infancy Decreased liver function Postnatal microcephaly Recurrent fractures Microcornea Increased variability in muscle fiber diameter Deep venous thrombosis Preauricular skin tag Abnormality of the skeletal system Hiatus hernia Downturned corners of mouth High-pitched cry Talipes equinovarus Thick hair Hypertonia Joint hyperflexibility Clinodactyly Dislocated radial head Abnormal heart morphology Open mouth Cat cry Sensorineural hearing impairment Hypoplasia of the maxilla Pallor Cardiomyopathy Behavioral abnormality Delayed eruption of teeth Low anterior hairline Thrombocytopenia Pectus excavatum Abnormality of the pinna Severe short stature Clinodactyly of the 5th finger Long eyelashes Obesity Inguinal hernia Kyphoscoliosis Hyperactivity Hypothyroidism Tapered finger Abnormality of the eye Fever Abnormality of cardiovascular system morphology Visual loss Exotropia Joint laxity Protruding ear Microretrognathia Cerebral atrophy Hyporeflexia Splenomegaly Autistic behavior Craniosynostosis Abnormality of the dentition Pain Arachnodactyly Decreased body weight Clumsiness Short foot Relative macrocephaly Encephalopathy Sleep disturbance Abnormal pyramidal sign Developmental regression Horseshoe kidney Short nose Narrow mouth Self-mutilation Progressive visual loss Reduced visual acuity Proptosis Type I transferrin isoform profile Elevated hepatic transaminase Ventriculomegaly Hypermetropia Hyperhidrosis Apnea Micromelia Sandal gap Cerebellar atrophy Brachydactyly Blindness Limb ataxia Abnormality of the larynx Macrodontia Bull's eye maculopathy Frequent falls Granulocytopenia Primary amenorrhea Macular edema Congenital neutropenia Furrowed tongue Bone spicule pigmentation of the retina Sensory impairment Amenorrhea Aplasia/Hypoplasia of the earlobes Iris atrophy Inability to walk Intellectual disability, mild Tapetoretinal degeneration Depressivity Distal sensory impairment Distal amyotrophy Recurrent aphthous stomatitis Falls Distal muscle weakness Myalgia Pes cavus Misalignment of teeth Peripheral visual field loss Facial hypotonia Abnormality of retinal pigmentation Gowers sign Myopathic facies Multiple lipomas Hyperthyroidism Intellectual disability, progressive Poor coordination Progressive microcephaly Mitochondrial myopathy Prolactin excess Gingival overgrowth Recurrent skin infections Speech articulation difficulties Tall stature Lumbar hyperlordosis Decreased fetal movement Mitral valve prolapse Convex nasal ridge Aciduria Growth hormone deficiency Prominent nose Neutropenia Leukopenia Laryngomalacia Vocal cord paralysis Truncal obesity Microglossia Gingivitis Schizophrenia Posterior subcapsular cataract Laryngeal stenosis Thoracic scoliosis Subcapsular cataract Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Reduced number of teeth Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Dysdiadochokinesis Precocious puberty Hyperplasia of the maxilla Hypoplastic philtrum Chorioretinal dystrophy Elbow flexion contracture Self-injurious behavior Pyloric stenosis Deep philtrum Incoordination Abnormality of the urinary system Perimembranous ventricular septal defect Widely spaced teeth Torticollis Spontaneous abortion Increased body weight Clubbing Recurrent urinary tract infections Hand oligodactyly Phocomelia Choanal atresia Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Proximal placement of thumb Tricuspid regurgitation Hypertropia Poor appetite Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Panhypopituitarism Aspiration pneumonia Ectrodactyly Cutis marmorata Oligodactyly Hypoplastic nipples Peters anomaly Short sternum Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Hypertrichosis Left-to-right shunt Cutis gyrata of scalp Anemia Hypoplastic radial head Conductive hearing impairment Hypoglycemia Dysplastic tricuspid valve Glaucoma Pneumonia Headache Vomiting Atrial septal defect Neoplasm Hypertrophic cardiomyopathy Slender toe Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum Chorioretinal dysplasia Muscle weakness Narrow philtrum Narrow palm Hemeralopia Proteinuria Telecanthus Projectile vomiting Sepsis Low posterior hairline Renal hypoplasia Duplication of internal organs Blue sclerae Congenital diaphragmatic hernia Malrotation of colon Microdontia Webbed neck Vesicoureteral reflux Triangular face Hip dislocation Otitis media with effusion Renal cyst Reduced renal corticomedullary differentiation Hirsutism Pulmonary hypoplasia Abnormality of the umbilicus Cleft upper lip Vertigo Toe syndactyly Pulmonic stenosis Hypoplasia of the radius Narrow vertebral interpedicular distance Retinal detachment Choreoathetosis Muscle fibrillation Anhidrosis Oral-pharyngeal dysphagia Hyperkinesis Sleep apnea Cone/cone-rod dystrophy Coxa valga Involuntary movements Apraxia Restlessness Increased serum lactate Gliosis Polyneuropathy Paresthesia Abnormality of movement Abnormality of eye movement Corneal opacity Scarring Abnormality of the liver Axonal loss Blepharitis Myoclonus Decreased CSF/serum albumin ratio Abnormality of vision Hemangioma Knee flexion contracture Telangiectasia Progressive neurologic deterioration Febrile seizures Nail dysplasia Muscular dystrophy Absent speech Decreased CSF albumin Action tremor Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Corneal ulceration Decreased sensory nerve conduction velocity Elevated alpha-fetoprotein Alacrima Pain insensitivity Osteoporosis Recurrent respiratory infections Flat occiput Abnormal bleeding Global brain atrophy Adducted thumb Poor head control Short chin Horizontal nystagmus Hypsarrhythmia Abnormality of extrapyramidal motor function Epileptic encephalopathy Coarse facial features Poor eye contact Cognitive impairment Nonprogressive visual loss Hyposegmentation of neutrophil nuclei Blue cone monochromacy Prominent glabella Achromatopsia Dyschromatopsia Cutis laxa Fine hair Infantile spasms Abnormality of brain morphology Constipation Sparse eyebrow Dystonia Peripheral neuropathy Intestinal atresia Periventricular leukomalacia Soft skin Arachnoid cyst Curly hair Abnormality of coagulation Unilateral renal agenesis Infantile muscular hypotonia Abnormality of lateral ventricle Severe muscular hypotonia Hemivertebrae Abnormality of the ribs Esotropia Full cheeks Abnormality of the cerebral white matter Deeply set eye Hypoplasia of the corpus callosum Frontal bossing Trigonocephaly Lower limb hyperreflexia Thick vermilion border Delusions Abnormality of bone mineral density Functional respiratory abnormality Auditory hallucinations Facial grimacing Echolalia Short attention span Diastasis recti Stenosis of the external auditory canal Esophageal atresia Conspicuously happy disposition Premature graying of hair High pitched voice Metatarsus adductus Tracheoesophageal fistula Prominent supraorbital ridges Narrow face Hallucinations Stereotypy Thick lower lip vermilion Hyperacusis Anterior open-bite malocclusion Bifid uvula Paralysis Retinal dystrophy Iris coloboma Abnormality of skin pigmentation Retinal degeneration Genu valgum Delayed puberty Neurological speech impairment Stroke Nyctalopia Arthritis Oppositional defiant disorder Macrotia Diabetes mellitus Rod-cone dystrophy Dilatation Microphthalmia Malar flattening Recurrent infections in infancy and early childhood Overfriendliness High axial triradius Round face Postural instability Ankle contracture Hypogonadism Melanocytic nevus Disproportionate short-limb short stature Increased intracranial pressure Accelerated skeletal maturation Short phalanx of finger Nevus Broad nasal tip Hypodontia Skeletal dysplasia Midface retrusion Mild short stature Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Abnormal myelination Prolonged partial thromboplastin time Upper limb undergrowth Cone-shaped epiphysis Dextrocardia Oral cleft Long hallux Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Spasticity Neonatal epiphyseal stippling Mild postnatal growth retardation Calvarial hyperostosis Thyroid hypoplasia Hypoplastic vertebral bodies Constrictive median neuropathy Mixed hearing impairment Menstrual irregularities Elevated circulating parathyroid hormone level Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Epiphyseal stippling Spinal canal stenosis Broad palm Short finger Enlarged interhemispheric fissure



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