Hypertelorism, and Ichthyosis

Diseases related with Hypertelorism and Ichthyosis

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

Top matches:

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

High match SRD5A3-CDG

SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Other less relevant matches:

High match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

High match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Hypertelorism and Ichthyosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Ichthyosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Short neck Depressed nasal bridge Hearing impairment Depressed nasal ridge Micrognathia Short stature Polyhydramnios Downslanted palpebral fissures Hypoplasia of the corpus callosum Hyperkeratosis Anteverted nares Strabismus Camptodactyly Proptosis Cleft palate Intrauterine growth retardation Edema Abnormality of eye movement Cerebral atrophy Abnormality of the pinna Narrow mouth Anemia Cerebellar hypoplasia Cerebellar atrophy Flexion contracture Ventriculomegaly Coloboma Decreased fetal movement Polymicrogyria Spasticity Webbed neck Muscular hypotonia Ventricular septal defect Growth delay Pachygyria Sloping forehead Abnormal heart morphology Atrial septal defect Macrocephaly Ptosis Retrognathia Wide mouth Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Cardiorespiratory arrest Scoliosis Ectropion Large hands Duplicated collecting system Abnormal cardiac septum morphology Opisthotonus Prominent occiput Prominent forehead Joint contracture of the hand Talipes equinovarus Feeding difficulties Absent septum pellucidum Transposition of the great arteries Palmoplantar hyperkeratosis Nephrotic syndrome Redundant skin Thick lower lip vermilion Hip dislocation Pulmonary hypoplasia Ectodermal dysplasia Bifid uvula Widely spaced teeth Oligohydramnios Postnatal microcephaly Everted lower lip vermilion Thick vermilion border Lissencephaly Overfolded helix Tall stature Limb undergrowth Microphthalmia Microdontia Arthrogryposis multiplex congenita Upslanted palpebral fissure Epicanthus Cerebral calcification Large for gestational age Cerebral cortical atrophy Cryptorchidism Skeletal muscle atrophy Proteinuria Palmoplantar keratoderma Short nose Elevated hepatic transaminase Developmental regression Failure to thrive Fine hair Apnea Neonatal hypotonia Abnormality of coagulation Abnormality of the dentition Erythroderma Nystagmus Hepatomegaly Inflammatory abnormality of the skin Hyperreflexia Brachycephaly Eczema Pulmonic stenosis Wide nasal bridge Agenesis of corpus callosum Coarse facial features Macrotia Patent ductus arteriosus Hepatic failure Hypogonadism Abnormal cortical gyration High forehead Low-set, posteriorly rotated ears Rocker bottom foot Abnormality of the eye Stroke Sparse hair Peripheral neuropathy Conductive hearing impairment Hydropic placenta Thickened skin Abnormality of the face Abnormality of the microglia Progressive neurologic deterioration Autism Open mouth Enlarged fetal cisterna magna Frontal bossing Interphalangeal joint contracture of finger Pancytopenia Premature birth Mild fetal ventriculomegaly Cardiomegaly Clinodactyly of the 5th finger Underdeveloped nasal alae Brachydactyly Congenital ichthyosiform erythroderma Purpura Hydrops fetalis Pneumothorax Petechiae Hypokinesia Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Astrocytosis Abnormality of the spinal cord Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Thoracic hypoplasia Multiple joint contractures Knee flexion contracture Sudden episodic apnea Low voltage EEG Distal arthrogryposis Abnormality of the small intestine Poor suck Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Intracranial hemorrhage Neonatal respiratory distress Congenital contracture Pleural effusion Apathy Desquamation of skin soon after birth Akinesia Myocardial necrosis Hepatic necrosis Hydronephrosis Long foot Abnormality of the nervous system Sepsis Hypsarrhythmia Generalized-onset seizure Overgrowth Neuronal loss in central nervous system Epileptic encephalopathy Vesicoureteral reflux Delayed myelination Gliosis Generalized myoclonic seizures Large fontanelles Hemolytic anemia Downturned corners of mouth Wide nose Short distal phalanx of finger Cirrhosis Muscular hypotonia of the trunk Micropenis Respiratory failure Small nail Gingival overgrowth Pneumonia Developmental stagnation Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Hemoglobinuria Seborrheic dermatitis Breech presentation High anterior hairline Cerebral visual impairment Pierre-Robin sequence Epileptic spasms Central hypotonia Infantile spasms Scaling skin Elevated alkaline phosphatase Deep philtrum Multicystic kidney dysplasia Myoclonus Encephalopathy Abnormality of the kidney Broad-based gait Brittle hair Growth abnormality Recurrent skin infections Abnormality of the outer ear Abnormal dermatoglyphics Osteolysis Skin ulcer Abnormality of epiphysis morphology Tetralogy of Fallot Keratitis Hypodontia Short foot Short palm Hypotrichosis Corneal opacity Leukemia Short philtrum Erythema Abnormality of dental morphology Decreased fertility Obesity Clubbing of toes Absent speech Malar flattening Long philtrum Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Violent behavior Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the hand Aplastic clavicle Increased number of teeth Ureteropelvic junction obstruction Aplasia/Hypoplasia of the nipples Peripheral pulmonary artery stenosis Retinal coloboma Triangular face Acute leukemia Acute lymphoblastic leukemia Hypoplastic nipples Abnormal bleeding Pterygium Ascites Hydrocephalus Growth hormone deficiency Attention deficit hyperactivity disorder Joint laxity Hypertrophic cardiomyopathy Hyperactivity Dilatation Cognitive impairment Long eyelashes Optic disc hypoplasia Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Abnormal corpus callosum morphology Abnormality of peripheral nerve conduction Cortical dysplasia Abnormality of vision Sparse scalp hair Hyperpigmentation of the skin Intellectual disability, progressive Visual impairment Convex nasal ridge Stage 5 chronic kidney disease Arachnodactyly Deeply set eye Pectus excavatum Midface retrusion Delayed speech and language development Relative macrocephaly Loose anagen hair Small posterior fossa Slow-growing hair Deep palmar crease Megalencephaly Arnold-Chiari type I malformation Nasal speech Poor head control Short chin Coarctation of aorta Absent eyebrow Abnormality of skin pigmentation Visual loss Motor delay Neuropathic arthropathy Arthropathy Curly hair Sparse eyebrow Hypertrichosis Bilateral ptosis Hemangioma Mitral valve prolapse Peripheral axonal neuropathy Broad forehead Cardiomyopathy Myopia Cerebellar vermis hypoplasia Cutis laxa Progressive microcephaly Intellectual disability, severe Polyneuropathy Long face Dolichocephaly Severe global developmental delay Prominent nasal bridge Areflexia Congestive heart failure Optic atrophy Oligodontia Sensorineural hearing impairment Ataxia Reduced antithrombin III activity Anterior pituitary hypoplasia Type I transferrin isoform profile Microcytic anemia Optic nerve hypoplasia Narrow forehead Leukodystrophy Metabolic acidosis Abnormality of nervous system morphology Macrogyria Abnormality of the cerebellar vermis Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hydranencephaly Generalized edema Choroid plexus cyst Lack of skin elasticity Trismus Abnormal eyelid morphology Broad foot Absent eyelashes Abnormality of the mouth Severe intrauterine growth retardation Bifid uterus Aplasia/Hypoplasia involving the skeletal musculature Submucous cleft hard palate Hypertonia High, narrow palate Microtia Abnormality of the liver Jaundice Hepatosplenomegaly Thrombocytopenia Splenomegaly Respiratory distress Small placenta Respiratory insufficiency Dysphagia Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Abnormal eyelash morphology Osteomalacia Hypocalcemia Hypertensive crisis Clinodactyly Abnormality of cardiovascular system morphology Syndactyly Kyphosis Abnormality of the skeletal system Cataract Diffuse mesangial sclerosis Osteopenia Hand clenching Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Osteoporosis Cleft lip External genital hypoplasia Ambiguous genitalia Abnormality of neuronal migration Bilateral cryptorchidism Radial deviation of finger Rickets Patent foramen ovale Spina bifida Abnormality of the hair Dandy-Walker malformation Finger syndactyly Renal agenesis Abnormality of the skin Muscle cramps Cleft upper lip Micromelia Toe syndactyly Muscular dystrophy Abnormality of the pons


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