Frontal bossing, and Retinal dystrophy

Diseases related with Frontal bossing and Retinal dystrophy

In the following list you will find some of the most common rare diseases related to Frontal bossing and Retinal dystrophy that can help you solving undiagnosed cases.

Top matches:

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Other less relevant matches:

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Frontal bossing and Retinal dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pigmentary retinopathy Retinal degeneration Optic atrophy Macrocephaly Low-set ears Seizures Intellectual disability Epicanthus Ataxia EEG abnormality Limb undergrowth Growth delay Wide nasal bridge Downslanted palpebral fissures Brachydactyly Hypertelorism Blindness Visual impairment Polydactyly Craniosynostosis Anteverted nares

Rare Symptoms - Less than 30% cases

Bilateral single transverse palmar creases Renal insufficiency Abnormality of the skeletal system Telecanthus Abnormality of the liver Severe global developmental delay Narrow chest Developmental regression Abnormality of metabolism/homeostasis Hyperreflexia Cataract Muscular hypotonia Sensorineural hearing impairment Sparse hair Spasticity Stage 5 chronic kidney disease Cutis laxa Peripheral axonal neuropathy Photophobia Gait ataxia Hypogonadism Peripheral neuropathy Failure to thrive Sagittal craniosynostosis Nephronophthisis Chronic kidney disease Hepatic fibrosis Cirrhosis Irritability Retinopathy Rhizomelia Cholestasis Hearing impairment Pneumonia Recurrent pneumonia Hepatomegaly Ectodermal dysplasia Strabismus Delayed puberty Molar tooth sign on MRI Nyctalopia Micrognathia Growth hormone deficiency Hypothyroidism Feeding difficulties Micropenis Postaxial polydactyly Short distal phalanx of finger Ptosis Recurrent infections Cone/cone-rod dystrophy Bowing of the long bones Metaphyseal irregularity Short ribs Cleft palate Abnormality of the metaphysis Coxa vara Epiphyseal dysplasia Progressive visual loss Astigmatism Neonatal respiratory distress Thoracic hypoplasia Mild short stature Short femoral neck Metaphyseal dysplasia Bronchitis Bell-shaped thorax Thoracic kyphosis Ovoid vertebral bodies Thoracic dysplasia Spondylometaphyseal dysplasia Anterior rib cupping Prominent sternum Narrow greater sacrosciatic notches Platyspondyly Short metacarpal Postnatal growth retardation Apathy Coma Sensory impairment Migraine Type II diabetes mellitus Status epilepticus Intention tremor Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Paraparesis Spastic paraparesis Agitation Skeletal dysplasia Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Biliary tract abnormality Scoliosis Respiratory distress Kyphosis Short nose Visual loss Delayed skeletal maturation Aplasia/hypoplasia of the extremities Proptosis Reduced visual acuity Enchondroma Cupped ribs Generalized-onset seizure Myoclonus Brachycephaly Respiratory failure Osteopenia Elevated hepatic transaminase Neonatal hypotonia Neurological speech impairment Abnormality of the cerebral white matter Hypodontia Tetraplegia Brain atrophy Peripheral demyelination Bilateral sensorineural hearing impairment Dystonia Spastic tetraplegia Leukodystrophy Intellectual disability, progressive Abnormal electroretinogram Hand polydactyly Inverted nipples Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Babinski sign Hypertonia Proximal femoral metaphyseal irregularity Asthma Sensory neuropathy Irregular iliac crest Hypertension Abnormality of the dentition Pectus excavatum Protruding ear Hypermetropia Smooth philtrum Joint hypermobility Thin vermilion border Nephropathy Full cheeks Hip dysplasia Intellectual disability, severe Bone marrow hypocellularity Cutaneous finger syndactyly Elevated serum creatinine Broad distal phalanx of finger Pes valgus Broad phalanx of the toes Depressed nasal bridge Myopia Gait disturbance Dysphagia Respiratory insufficiency Hypoplasia of the corpus callosum Polyneuropathy Cerebellar hypoplasia Distal sensory impairment Dry skin Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Cerebellar vermis hypoplasia Intellectual disability, profound Syndactyly Thick vermilion border Joint laxity Hirsutism Pulmonic stenosis Toe syndactyly Polymicrogyria Abnormality of neuronal migration Feeding difficulties in infancy Everted lower lip vermilion Deeply set eye Absent speech Postaxial hand polydactyly Fine hair Motor delay Inferior vermis hypoplasia Sandal gap Ectopic posterior pituitary Widely spaced teeth Adrenal insufficiency Abnormal palate morphology Panhypopituitarism Ventricular septal defect Small nail Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Renal cyst Abnormal facial shape Intellectual disability, moderate Macrotia High palate Malar flattening Short neck Delayed speech and language development Encephalocele High forehead Low-set, posteriorly rotated ears Infra-orbital crease Enlarged cisterna magna Dolichocephaly Abnormality of movement Deep philtrum High, narrow palate Esotropia Abnormality of retinal pigmentation Decreased liver function Wide anterior fontanel Central hypothyroidism Scaphocephaly Nausea Choroideremia Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Long eyebrows Sparse scalp hair Central heterochromia Cleft lip Dysarthria Tremor Vomiting Headache Depressivity Encephalopathy Mental deterioration Underdeveloped nasal alae Confusion Unsteady gait Clumsiness Hypoplasia of penis Hypoplasia of teeth Obesity Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail 3-4 toe syndactyly Bilateral ptosis Muscle weakness Cryptorchidism Cognitive impairment Recurrent upper respiratory tract infections Cerebellar atrophy Alopecia Progressive cerebellar ataxia Severe short stature Tachypnea Hypoglycemia Pallor Distal muscle weakness Small for gestational age Spastic paraplegia Oculomotor apraxia Paraplegia Apraxia Distal amyotrophy Thick eyebrow Diffuse hepatic steatosis


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