High palate, and Visual loss

Diseases related with High palate and Visual loss

In the following list you will find some of the most common rare diseases related to High palate and Visual loss that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Other less relevant matches:

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

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

High match ISOLATED ANIRIDIA

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Top 5 symptoms//phenotypes associated to High palate and Visual loss

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Visual loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypoplasia of the corpus callosum Generalized hypotonia Intellectual disability Nystagmus Kyphosis Hypertelorism High forehead Hearing impairment Exotropia Renal insufficiency Frontal bossing Strabismus Pectus excavatum Smooth philtrum Pain Ataxia Short stature Cataract Cleft palate Epicanthus Low-set ears Blue sclerae Myopia Cutis laxa Reduced visual acuity Arachnodactyly Mitral valve prolapse

Rare Symptoms - Less than 30% cases

Glaucoma Small hand Microcephaly Choanal atresia Dilatation Congestive heart failure Short foot Hyperextensible skin Blindness Upslanted palpebral fissure Abnormality of the skin Proptosis Pneumonia Short nose Respiratory distress Recurrent urinary tract infections Cholestasis Joint laxity Umbilical hernia Joint hypermobility Abnormal retinal morphology Neonatal hypotonia Scaphocephaly Neoplasm Abnormality of skin pigmentation Joint hyperflexibility Abnormality of the dentition Edema Abnormality of cardiovascular system morphology Bruising susceptibility Renal cyst Retinal detachment Ptosis Scarring Microcornea Hypothyroidism Polymicrogyria Hernia Renal dysplasia Retinal hemorrhage Macrocephaly Intermittent claudication Cerebellar atrophy Prominent forehead Peau d'orange Myalgia Optic atrophy Rod-cone dystrophy Craniosynostosis Medial calcification of large arteries Myopathy Angina pectoris Brachydactyly Ventriculomegaly Anemia Medial calcification of medium-sized arteries Wide nasal bridge Retinal dystrophy Arteriosclerosis Acute kidney injury Subcutaneous nodule Growth delay Soft skin Hypertension Acne Hepatomegaly Narrow forehead Macular degeneration Micrognathia Skin rash Angioid streaks of the fundus High, narrow palate Gastrointestinal hemorrhage Abnormality of the cerebral white matter Failure to thrive Premature occlusive vascular stenosis Hypopituitarism Decreased light- and dark-adapted electroretinogram amplitude Optic nerve hypoplasia Opacification of the corneal stroma Type I diabetes mellitus Narrow palate Hyposmia Anosmia Bilateral ptosis Peters anomaly Adrenal insufficiency Ectopia lentis Nephroblastoma Anophthalmia Albinism Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Cryptorchidism Amblyopia Cerebral visual impairment Curly hair Abnormality of coagulation Unilateral renal agenesis Sparse eyebrow Relative macrocephaly Infantile muscular hypotonia Severe muscular hypotonia Hemivertebrae Horseshoe kidney Abnormality of the ribs Periventricular leukomalacia Esotropia Full cheeks Thin vermilion border Facial asymmetry Hypermetropia Short philtrum Autistic behavior Protruding ear Postnatal growth retardation Arachnoid cyst Intestinal atresia Dental crowding Macrotia Dandy-Walker malformation Hypopigmentation of the skin Falls Congenital cataract Attention deficit hyperactivity disorder Coloboma Intellectual disability, moderate Muscular hypotonia of the trunk Rigidity Gait ataxia Abnormal glucose tolerance Micropenis Hyperactivity Diabetes mellitus Hypogonadism Agenesis of corpus callosum Microphthalmia Hypertonia Anteverted nares Tremor Ocular pain Ascites Lower limb hypertonia Low-set, posteriorly rotated ears Macroglossia Delayed eruption of teeth Nephropathy Postaxial polydactyly Short distal phalanx of finger Retinal degeneration Oral cleft Stage 5 chronic kidney disease Wide mouth Abnormality of the kidney Cleft lip Microdontia Skeletal dysplasia Polydactyly Posteriorly rotated ears Depressivity Respiratory insufficiency Short neck Cognitive impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Bifid uvula Sparse scalp hair Chylous ascites Cone-shaped epiphyses of the phalanges of the hand Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Recurrent lower respiratory tract infections Short phalanx of finger Prominent metopic ridge Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Widely spaced teeth Short ribs Wide anterior fontanel Hepatic fibrosis Renal cortical microcysts Cerebral hypoplasia Central hypothyroidism Long philtrum Dolichocephaly Severe global developmental delay Abnormality of the liver Feeding difficulties in infancy Elevated hepatic transaminase Retrognathia Osteopenia Polyhydramnios Delayed skeletal maturation Hypospadias Talipes equinovarus Hepatic steatosis Skeletal muscle atrophy Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Talipes Deeply set eye Cerebral dysmyelination Decreased muscle mass Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Aplasia/Hypoplasia of the cerebellum Abdominal distention Hammertoe Decreased nerve conduction velocity Progressive hearing impairment Aspiration Large fontanelles Pachygyria Heterotopia Split hand Peripheral demyelination Progressive visual loss Gliosis Developmental regression Lack of skin elasticity Thin upper lip vermilion Hip dislocation Hallux valgus Increased susceptibility to fractures Corneal dystrophy Congenital hip dislocation Abnormality of epiphysis morphology High myopia Hip dysplasia Recurrent fractures Pulmonic stenosis Camptodactyly Megalocornea Conductive hearing impairment Pes planus Osteoporosis Inguinal hernia Gait disturbance Sensorineural hearing impairment Deviation of the thumb Hallux varus Cloverleaf skull Keratoconus Sclerocornea Broad hallux phalanx Pes cavus Hemiparesis Thick lower lip vermilion Polyneuropathy Thick vermilion border Thick eyebrow Hyperlordosis Carcinoma Photophobia Coarse facial features Constipation Corneal erosion Diarrhea Abnormality of the skeletal system Muscular hypotonia Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Aqueductal stenosis Short hallux Cafe-au-lait spot Mental deterioration Purpura Hyperbilirubinemia Exercise intolerance Tetraparesis Migraine Muscle cramps Hemolytic anemia Muscular dystrophy Paralysis Hepatosplenomegaly Hemiplegia Jaundice Encephalopathy Splenomegaly Fatigue Delayed speech and language development Yellow papule Calcification of falx cerebri Abnormality of the sternum Cerebral hemorrhage Spastic tetraparesis Emotional lability Tracheomalacia Finger syndactyly Atresia of the external auditory canal Laryngomalacia Increased intracranial pressure Arnold-Chiari malformation Broad thumb Intestinal malrotation Limitation of joint mobility Anal atresia Toe syndactyly Malar flattening Aphasia Hydrocephalus Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Reticulocytosis Rhabdomyolysis Aganglionic megacolon Goiter Autism Abnormality of the cerebral vasculature Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Peripheral arterial stenosis Mitral stenosis Choroidal neovascularization Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Striae distensae Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Ectopic calcification Abnormal endocardium morphology Coronary artery atherosclerosis Subretinal fluid Narrow mouth Cerebellar hypoplasia Ventricular septal defect Downslanted palpebral fissures Feeding difficulties Flexion contracture Medial calcification of small arteries Abnormal atrioventricular valve morphology Erythematous papule Peripapillary chorioretinal atrophy Metamorphopsia Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Hypermelanotic macule Cutis marmorata Failure to thrive in infancy Medullary thyroid carcinoma Subcutaneous neurofibromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Colonic diverticula Lisch nodules Inguinal freckling Parathyroid hyperplasia Pheochromocytoma Thyroid carcinoma Achalasia Neoplasm of the endocrine system Flushing Freckling Neurofibromas Disproportionate tall stature Elevated urinary epinephrine Prominent corneal nerve fibers Hemiplegia/hemiparesis Abnormality of the cardiovascular system Tricuspid regurgitation Abnormality of the thorax Intracranial hemorrhage Redundant skin Ischemic stroke Atherosclerosis Nephrocalcinosis Mitral regurgitation Myocardial infarction Cerebral calcification Ganglioneuromatosis Sudden cardiac death Postural instability Pruritus Papule Small for gestational age Stroke Retinopathy Cardiomyopathy Intrauterine growth retardation Multiple mucosal neuromas Absence of renal corticomedullary differentiation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Conductive hearing impairment, related diseases and genetic alterations Intellectual disability, severe and Triangular face, related diseases and genetic alterations Brachydactyly and Bilateral sensorineural hearing impairment, related diseases and genetic alterations