Low-set ears, and Ichthyosis

Diseases related with Low-set ears and Ichthyosis

In the following list you will find some of the most common rare diseases related to Low-set ears 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

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Other less relevant matches:

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Medium 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

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

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

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

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Medium match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Ichthyosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Ichthyosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Hearing impairment Failure to thrive Short stature Hypoplasia of the corpus callosum Ventricular septal defect Seizures Sloping forehead Micrognathia Growth delay Cryptorchidism Posteriorly rotated ears Short neck Intrauterine growth retardation Nystagmus Abnormal facial shape Scoliosis Cleft palate High forehead Hyperkeratosis Atrial septal defect Jaundice Anteverted nares Downslanted palpebral fissures Elevated hepatic transaminase Hydrocephalus Midface retrusion Lissencephaly Convex nasal ridge

Rare Symptoms - Less than 30% cases

Hip dislocation Hyperactivity Giant cell hepatitis Nephrogenic diabetes insipidus Microphthalmia Single transverse palmar crease Sensorineural hearing impairment Proteinuria Coloboma Esotropia Polyhydramnios Strabismus Abnormal cardiac septum morphology Epiphyseal stippling Eczema Abnormal heart morphology Cataract Cerebellar atrophy Deeply set eye Conjugated hyperbilirubinemia Muscular hypotonia Optic nerve hypoplasia Acidosis Cholestatic liver disease Talipes calcaneovalgus Right ventricular hypertrophy Leukodystrophy Narrow forehead Proptosis Edema Ptosis Ventriculomegaly Epicanthus Macrocephaly Cardiomyopathy Visual impairment Low-set, posteriorly rotated ears Renal tubular acidosis Spasticity Pulmonic stenosis Delayed speech and language development Nephrocalcinosis Hip dysplasia Metabolic acidosis Arthrogryposis multiplex congenita Nephropathy Hypertensive crisis Facial palsy Rod-cone dystrophy Osteoporosis Neonatal hypotonia Retinopathy Postnatal growth retardation Respiratory tract infection Absent speech Nyctalopia Arachnodactyly Dolichocephaly Congenital cataract Arrhythmia Hypoplastic left heart Hypocalcemia Oligohydramnios Ataxia Hypoalbuminemia Postnatal microcephaly Pachygyria Hepatomegaly Coarctation of aorta Nephrotic syndrome Diffuse mesangial sclerosis Behavioral abnormality Glomerulosclerosis Hand clenching Wide nasal bridge Skeletal muscle atrophy Corpus callosum atrophy Cortical gyral simplification Optic atrophy Focal segmental glomerulosclerosis Stage 5 chronic kidney disease Elevated levels of phytanic acid Cirrhosis Sacral dimple Smooth philtrum Long face Bulbous nose Wide nose Thick vermilion border Hypopigmentation of the skin Wide intermamillary distance Dandy-Walker malformation Aortic valve stenosis Narrow palpebral fissure Microretrognathia Overfolded helix Prominent nasal bridge Self-injurious behavior 2-3 toe syndactyly Overlapping toe Ectopic kidney Broad hallux Long fingers Narrow nose Hypoplastic aortic arch Overlapping fingers Otosclerosis Long neck Toe syndactyly Muscular hypotonia of the trunk Renal cyst Hypocholesterolemia Abnormality of the face Large fontanelles Nephrolithiasis Abnormality of epiphysis morphology Rhizomelia Progressive muscle weakness Hepatic fibrosis Spinal muscular atrophy Impulsivity Constriction of peripheral visual field Severe hearing impairment Hyperoxaluria Aggressive behavior Progressive spinal muscular atrophy Very long chain fatty acid accumulation Spotty hypopigmentation Brachydactyly Abnormality of the skeletal system Hypertonia Congestive heart failure Syndactyly Agenesis of corpus callosum Polydactyly Cerebral cortical atrophy Skeletal dysplasia Camptodactyly Slow-growing hair Narrow mouth Hypoplasia of the bladder Vesicoureteral reflux Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Renal dysplasia Hemivertebrae Plagiocephaly Abnormality of brain morphology Anemia Hypotrichosis Motor delay Depressed nasal bridge Visual loss Brachycephaly Abnormality of skin pigmentation Polymicrogyria Palmoplantar keratoderma Cerebellar vermis hypoplasia Hypertrichosis Iris coloboma Protruding ear Cutis laxa Broad forehead Abnormality of the pinna Decreased fetal movement Depressed nasal ridge Rocker bottom foot Abnormal cortical gyration Peripheral neuropathy Myopia Coarse facial features Sparse hair Peripheral axonal neuropathy Alopecia Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Arthropathy Neuropathic arthropathy Intellectual disability, severe Inflammatory abnormality of the skin Oligodontia Cerebellar hypoplasia Cholestasis Talipes equinovarus Osteopenia Abnormality of the liver Pruritus Talipes Abnormal bleeding Dehydration Epistaxis Ventricular hypertrophy Congenital hip dislocation Small posterior fossa Hyperbilirubinemia Aminoaciduria Diabetes insipidus Severe failure to thrive Renal tubular dysfunction Barrel-shaped chest Lichenification Generalized aminoaciduria Cerebral atrophy Pectus excavatum Loose anagen hair Deep palmar crease Erythroderma Hypertrophic cardiomyopathy Abnormality of coagulation Microcytic anemia Type I transferrin isoform profile Anterior pituitary hypoplasia Reduced antithrombin III activity Cognitive impairment Feeding difficulties Dilatation Prominent forehead Joint laxity Megalencephaly Attention deficit hyperactivity disorder Webbed neck Growth hormone deficiency Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Relative macrocephaly Nasal speech Redundant skin Arnold-Chiari type I malformation Olivopontocerebellar hypoplasia


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