Frontal bossing, and Cone/cone-rod dystrophy

Diseases related with Frontal bossing and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Frontal bossing and Cone/cone-rod 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

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

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

Other less relevant matches:

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

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

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 Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Rod-cone dystrophy 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 Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

Hyperreflexia Peripheral neuropathy Sagittal craniosynostosis Severe global developmental delay Abnormality of the liver Developmental regression Feeding difficulties Failure to thrive Bilateral single transverse palmar creases Abnormality of metabolism/homeostasis Sparse hair Nyctalopia Cataract Muscular hypotonia Sensorineural hearing impairment Strabismus Hearing impairment Postaxial polydactyly Rhizomelia Cholestasis Micrognathia Telecanthus Cirrhosis Chronic kidney disease Nephronophthisis Retinal dystrophy Cutis laxa Irritability Peripheral axonal neuropathy Recurrent pneumonia Abnormality of the skeletal system Renal insufficiency Hepatomegaly Spasticity Delayed puberty Pneumonia Growth hormone deficiency Molar tooth sign on MRI Hypothyroidism Narrow chest Photophobia Stage 5 chronic kidney disease Ectodermal dysplasia Hepatic fibrosis Ptosis Retinopathy Recurrent infections Hypogonadism Micropenis Gait ataxia Short distal phalanx of finger Tremor Scoliosis Respiratory distress Skeletal dysplasia Kyphosis Proptosis Dysarthria Short nose Delayed skeletal maturation Alopecia areata Long eyebrows Visual loss Choroideremia Central heterochromia Reduced visual acuity Biliary tract abnormality Apathy Vomiting Status epilepticus Distal sensory impairment Sensory neuropathy Nausea Polyneuropathy Coma Postnatal growth retardation Unsteady gait Confusion Migraine Mental deterioration Type II diabetes mellitus Intention tremor Headache Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Paraparesis Encephalopathy Spastic paraparesis Agitation Depressivity Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Sensory impairment Bell-shaped thorax Platyspondyly Brain atrophy Hypertonia Dystonia Babinski sign Myoclonus Brachycephaly Respiratory failure Osteopenia Elevated hepatic transaminase Neonatal hypotonia Neurological speech impairment Abnormality of the cerebral white matter Hypodontia Tetraplegia Peripheral demyelination Hypoplasia of the corpus callosum Generalized-onset seizure Bilateral sensorineural hearing impairment 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 Intellectual disability, severe Respiratory insufficiency Astigmatism Recurrent hypoglycemia Progressive visual loss Abnormality of the metaphysis Bowing of the long bones Short ribs Coxa vara Epiphyseal dysplasia Neonatal respiratory distress Metaphyseal irregularity Mild short stature Short femoral neck Thoracic hypoplasia Metaphyseal dysplasia Bronchitis Thoracic kyphosis Dysphagia Ovoid vertebral bodies Thoracic dysplasia Spondylometaphyseal dysplasia Anterior rib cupping Prominent sternum Narrow greater sacrosciatic notches Aplasia/hypoplasia of the extremities Cupped ribs Proximal femoral metaphyseal irregularity Enchondroma Irregular iliac crest Depressed nasal bridge Myopia Gait disturbance Titubation Short nail Progressive gait ataxia Enlarged cisterna magna Motor delay Absent speech Deeply set eye Feeding difficulties in infancy Polymicrogyria Hirsutism Thick vermilion border Intellectual disability, profound Cerebellar vermis hypoplasia Encephalocele Deep philtrum Infra-orbital crease Pes valgus Delayed speech and language development Ventricular septal defect Short neck Malar flattening Macrotia Intellectual disability, moderate Renal cyst Short metacarpal Underdeveloped nasal alae Small nail Horseshoe kidney Congenital blindness Broad phalanx of the toes Broad distal phalanx of finger Abnormal facial shape Hypertension Cleft palate Cerebellar hypoplasia Cleft lip Apraxia Oculomotor apraxia Tachypnea Recurrent upper respiratory tract infections Bilateral ptosis Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Abnormality of the dentition Elevated serum creatinine Pectus excavatum Protruding ear Hypermetropia Smooth philtrum Joint hypermobility Thin vermilion border Nephropathy Full cheeks Asthma Hip dysplasia Bone marrow hypocellularity Cutaneous finger syndactyly Metaphyseal chondrodysplasia High palate Retinal atrophy Spastic paraplegia Muscle weakness Cryptorchidism Cognitive impairment Cerebellar atrophy Obesity Alopecia Severe short stature Hypoglycemia Pallor Distal muscle weakness Small for gestational age Paraplegia Broad nail Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Hypoplasia of penis Sparse scalp hair Clumsiness Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy 3-4 toe syndactyly Bilateral postaxial polydactyly High forehead Polar cataract Low-set, posteriorly rotated ears Dolichocephaly Abnormality of movement High, narrow palate Esotropia Abnormality of retinal pigmentation Decreased liver function Wide anterior fontanel Abnormal palate morphology Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Elevated long chain fatty acids Peripheral pulmonary artery stenosis Syndactyly Joint laxity Pulmonic stenosis Toe syndactyly Dry skin Everted lower lip vermilion Postaxial hand polydactyly Fine hair Sandal gap Widely spaced teeth Scaphocephaly Hypoplasia of teeth Diffuse hepatic steatosis


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