Frontal bossing, and Hypothyroidism

Diseases related with Frontal bossing and Hypothyroidism

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

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

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

Other less relevant matches:

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Top 5 symptoms//phenotypes associated to Frontal bossing and Hypothyroidism

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diabetes mellitus Intellectual disability Scoliosis Generalized hypotonia Failure to thrive Ataxia Micrognathia Hearing impairment Seizures Cleft palate Ptosis Micropenis Hyperreflexia Growth delay Peripheral neuropathy Muscle weakness Muscular hypotonia High palate Downslanted palpebral fissures Dysarthria Proptosis Abnormal facial shape Delayed puberty Gait disturbance Oral-pharyngeal dysphagia Hypogonadism Dysphagia

Rare Symptoms - Less than 30% cases

Hypoplasia of the maxilla Osteopenia Kyphosis Cerebral atrophy Metaphyseal widening Spasticity Flexion contracture Cataract Hypogonadotrophic hypogonadism Strabismus Fever Dystonia Short nose Tetraplegia Abnormality of metabolism/homeostasis Delayed speech and language development Cerebral calcification Vomiting Dehydration Amenorrhea Prominent nasal bridge Protruding ear Dysphasia Failure to thrive in infancy Sleep apnea Dental malocclusion Triangular face EEG abnormality Feeding difficulties Constipation Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Gliosis Pigmentary retinopathy Generalized muscle weakness Abnormality of the cerebral white matter Abnormal pyramidal sign Developmental regression Mental deterioration Prominent forehead Dementia Sparse scalp hair Intellectual disability, mild Low-set ears Splenomegaly Alopecia Small for gestational age Camptodactyly Hepatomegaly Respiratory failure Diarrhea Growth hormone deficiency Sparse hair Macrocephaly Cerebellar atrophy Decreased testicular size Bilateral sensorineural hearing impairment Prominent nose Polyneuropathy Psychosis Thick eyebrow Sensory neuropathy Fine hair Hypotrichosis Arthrogryposis multiplex congenita High forehead Babinski sign Sensorineural hearing impairment Synostosis of joints Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Abnormality of movement Hyperlipidemia Myocardial infarction Insulin-resistant diabetes mellitus Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Autoimmune thrombocytopenia Primary amenorrhea Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Absent toenail Purpura Hypergonadotropic hypogonadism Hallucinations Absent fingernail Abnormality of digit Synostosis of carpal bones Clinodactyly Renal agenesis Hypodontia High, narrow palate Micromelia Toe syndactyly Congenital cataract Hip dislocation Finger syndactyly Short philtrum Deeply set eye Abnormality of the ribs Retrognathia Syndactyly Malar flattening Depressed nasal bridge Receptive language delay Central sleep apnea Expressive language delay Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Convex nasal ridge Renal hypoplasia Oligodactyly Deep philtrum Congenital hypothyroidism Progressive extrapyramidal movement disorder Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Hypoplasia of the radius Abnormal form of the vertebral bodies Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Narrow palate Hemivertebrae Congenital hip dislocation Short thumb Abnormality of the genital system Decreased serum insulin-like growth factor 1 Hypertension Hypoplasia of the fallopian tube Proteinuria Hypohidrosis Nephrolithiasis Memory impairment Hypopigmentation of the skin Abnormality of skin pigmentation Stage 5 chronic kidney disease Confusion Genu valgum Retinopathy Photophobia Polydipsia Delayed skeletal maturation Renal insufficiency Myopathy Blindness Skeletal muscle atrophy Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Chronic kidney disease Rickets Pseudobulbar signs Recurrent corneal erosions Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Decreased plasma carnitine Hyponatremia Male hypogonadism Heat intolerance Preeclampsia Flushing Microscopic hematuria Exocrine pancreatic insufficiency Hypopigmentation of hair Male infertility Glycosuria Polyuria Progressive macrocephaly Large face Progressive alopecia Weight loss Sudden cardiac death Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Neurological speech impairment Cough Hyperlordosis Facial palsy Hyperhidrosis Hypotension Agenesis of corpus callosum Hyporeflexia Depressivity Hydrocephalus Respiratory insufficiency Short neck Tremor Abnormal renal morphology Motor delay Chorea Peripheral demyelination Hypersomnia Progressive spasticity Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Bowel incontinence Diplopia Emotional lability Self-injurious behavior Precocious puberty Encephalitis Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Hypocholesterolemia Poor eye contact Speech apraxia Generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Vertebral compression fractures Metacarpal osteolysis Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Severe generalized osteoporosis Metatarsal osteolysis Rod-cone dystrophy Cryptorchidism Encephalopathy Bilateral ptosis Molar tooth sign on MRI Panhypopituitarism Central hypothyroidism Optic atrophy Ectopic posterior pituitary Inferior vermis hypoplasia Visual impairment Obesity Carpal osteolysis Severe short stature Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Abnormality of the thorax Osteolysis Areflexia Retinal atrophy Spastic paraplegia Paraplegia Central heterochromia Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Progressive gait ataxia Chorioretinal atrophy Brachydactyly Sensory axonal neuropathy Peripheral axonal neuropathy Horizontal nystagmus Gynecomastia Long eyelashes Clumsiness Retinal degeneration Hypoplasia of penis Distal amyotrophy Distal muscle weakness Pallor Knee flexion contracture Small hand Gingival overgrowth Thickened skin Decreased body weight Subcutaneous nodule Split hand Hypertrichosis Interphalangeal joint contracture of finger Gait ataxia Delayed eruption of teeth Hirsutism Pes cavus Bulbous nose Corneal opacity Arthritis Pes planus Arthralgia Coarse facial features Hypoglycemia Kyphoscoliosis Brachycephaly Osteoporosis Visual loss Recurrent upper respiratory tract infections Abnormality of chromosome segregation Mandibular prognathia Autistic behavior Feeding difficulties in infancy Abnormality of the kidney Apnea Low-set, posteriorly rotated ears Anxiety Neonatal hypotonia Asthma Gastroesophageal reflux Autism Attention deficit hyperactivity disorder Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Hepatitis Abnormality of the dentition Hypoplasia of the corpus callosum Abnormal lung morphology Chronic diarrhea Myopia Wide mouth Broad forehead Type I diabetes mellitus Patent foramen ovale Echolalia Bipolar affective disorder Progressive cerebellar ataxia High hypermetropia Posteriorly rotated ears Open bite Abnormality of dental morphology Language impairment Trigonocephaly Infantile muscular hypotonia Hypermetropia Autoimmunity Hypercholesterolemia Stereotypy Dental crowding Abnormality of the cardiovascular system Dolichocephaly Delayed myelination Bifid uvula Malabsorption Smooth philtrum Wide nasal bridge Epicanthus Cone/cone-rod dystrophy Recurrent infections Prominent occiput Chronic lung disease Tetraparesis Spastic tetraplegia Interstitial pneumonitis Neuronal loss in central nervous system Anteverted nares Generalized myoclonic seizures Parkinsonism Cerebellar hypoplasia Severe muscular hypotonia Neurodegeneration Unsteady gait Cleft lip Paralysis Apraxia Oculomotor apraxia Muscular hypotonia of the trunk Cerebral cortical atrophy Tachypnea Sensorimotor neuropathy Decreased nerve conduction velocity Short chin EMG: chronic denervation signs Abnormal intestine morphology Relative macrocephaly Microcephaly Cerebellar gliosis Hypothalamic hypothyroidism Autoamputation of digits Autoamputation Cerebellar cortical atrophy Spinal deformities Degeneration of the lateral corticospinal tracts Poor suck Urinary retention Morphological abnormality of the pyramidal tract Corpus callosum atrophy Lewy bodies Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Epiphora Keratitis Elevated intracellular cystine


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