Frontal bossing, and Limb-girdle muscular dystrophy

Diseases related with Frontal bossing and Limb-girdle muscular dystrophy

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

Top matches:

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Other less relevant matches:

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Low-set ears Skeletal muscle atrophy Glaucoma Macrocephaly Cataract Generalized hypotonia Muscle weakness Seizures Delayed skeletal maturation Hearing impairment Cryptorchidism Depressed nasal bridge Flexion contracture Deeply set eye Small for gestational age Growth hormone deficiency Dandy-Walker malformation Muscular hypotonia Ventriculomegaly Hypogonadism Microphthalmia Hypertelorism Intrauterine growth retardation Cleft palate Pain

Rare Symptoms - Less than 30% cases

Remnants of the hyaloid vascular system Scoliosis Metaphyseal dysplasia Sensorineural hearing impairment Microcephaly Craniosynostosis Hydronephrosis Micropenis Short nose Optic atrophy Ataxia Proptosis Neoplasm Failure to thrive Severe short stature Coarctation of aorta Triangular face Bulbous nose Hypothyroidism Clinodactyly Atrial septal defect Cognitive impairment Micrognathia Abnormality of tibia morphology Corneal opacity Abnormality of the skull Waddling gait Delayed puberty Hyperlordosis Pes planus Skeletal dysplasia Kyphosis Gait disturbance Type II lissencephaly Retinal atrophy Hypoplasia of penis Agyria Lumbar hyperlordosis Peters anomaly Pachygyria Polymicrogyria Cerebellar hypoplasia Elevated serum creatine phosphokinase Adrenal hypoplasia Retinal detachment Myopathy Congenital adrenal hypoplasia Hypoglycemia Facial palsy Intellectual disability, profound Encephalocele Areflexia Microtia Hypoplasia of the corpus callosum Lissencephaly Optic nerve hypoplasia Adrenal insufficiency Congenital muscular dystrophy Hypoplasia of the brainstem Retinal dysplasia Heterotopia Hydrocephalus Nephroblastoma Intestinal polyposis Abnormality of the upper limb Myelodysplasia Colon cancer Duodenal atresia Acute lymphoblastic leukemia Abnormal lung lobation Multiple cafe-au-lait spots Atrioventricular canal defect Aplasia/Hypoplasia of the cerebellum Abnormality of immune system physiology Epidermoid cyst Subvalvular aortic stenosis Arthralgia Back pain Growth abnormality Accelerated skeletal maturation Short thumb Osteoarthritis Joint stiffness Arthritis Midface retrusion Rhabdomyosarcoma Brachydactyly Vaginal neoplasm Premature chromatid separation Sleep apnea Increased nuchal translucency Abnormal aortic morphology Stomach cancer Abnormality of vision Rhizomelia Aplasia/Hypoplasia of the corpus callosum Abnormal heart morphology Abnormality of the eye Apnea Low-set, posteriorly rotated ears High forehead Polyhydramnios Acidosis Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Dolichocephaly Intellectual disability, mild Lethargy Ventricular septal defect Abnormality of the skeletal system Downslanted palpebral fissures Epicanthus Downturned corners of mouth Blepharophimosis Abnormality of skin pigmentation Aortic regurgitation Depressed nasal ridge Holoprosencephaly Microretrognathia Osteolysis Finger clinodactyly Multicystic kidney dysplasia Cafe-au-lait spot Broad hallux Short palpebral fissure Long face Vomiting Ambiguous genitalia Sloping forehead Osteoporosis Ascites Wide nose Diabetes mellitus Mild short stature Limited elbow flexion Limited elbow extension Rod-cone dystrophy Paraplegia Spastic paraplegia Distal muscle weakness Sparse hair Pallor Gait ataxia Alopecia Retinal degeneration Obesity Cerebellar atrophy Peripheral neuropathy Nystagmus Fulminant hepatic failure Thoracic kyphoscoliosis Down-sloping shoulders Peripheral axonal neuropathy Distal amyotrophy Posterior subcapsular cataract Sensory axonal neuropathy Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Progressive gait ataxia Chorioretinal atrophy Hypogonadotrophic hypogonadism Thick eyebrow Horizontal nystagmus Gynecomastia Long eyelashes Clumsiness Sparse scalp hair Pigmentary retinopathy Progressive cerebellar ataxia Thoracic kyphosis Hepatocellular carcinoma Disproportionate short stature Quadriceps muscle atrophy Poor speech Pulmonic stenosis Elevated hepatic transaminase Cerebral atrophy Delayed speech and language development Strabismus Abnormality of skeletal physiology Coma Cholestasis Decreased hip abduction Osteochondritis Dissecans Low back pain Abnormality of the knee Exostoses Joint swelling Proportionate short stature Hepatic steatosis Progressive muscle weakness Subcapsular cataract Carcinoma Premature graying of hair Lipodystrophy Elbow flexion contracture Decreased body weight Single transverse palmar crease Hepatic failure Prominent nasal bridge Kyphoscoliosis Decreased liver function Abdominal pain Pectus excavatum Narrow foot Hypermethioninemia Portal fibrosis Secundum atrial septal defect Hyperbilirubinemia Metabolic acidosis Cranial hyperostosis Elevated aldolase level Atresia of the external auditory canal Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Anophthalmia Congenital contracture Severe muscular hypotonia Respiratory insufficiency Renal dysplasia Cerebellar vermis hypoplasia Specific learning disability Bifid uvula Microcornea Retinal dystrophy Iris coloboma Submucous cleft hard palate Megalocornea Cleft upper lip Posterior fossa cyst Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Excessive daytime sleepiness Bilateral cleft lip Cerebellar cyst Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Oral cleft Anal atresia Chorioretinal dysplasia Respiratory tract infection Nephrocalcinosis Hypocalcemia Abnormality of the genital system Bilateral sensorineural hearing impairment Micromelia Decreased fetal movement Postnatal growth retardation Hypercalciuria Prominent forehead Hypospadias Large fontanelles Adducted thumb Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Short long bone Hypercalcemia Congenital cataract Hyporeflexia Abnormality of the cerebral white matter Retinopathy Coloboma Protruding ear Cleft lip Posteriorly rotated ears Agenesis of corpus callosum Dilatation Epiphyseal dysplasia Blindness Intellectual disability, severe Myopia Retrognathia Metaphyseal cupping Primary adrenal insufficiency Bilateral cryptorchidism Abnormal lactate dehydrogenase activity Hypoplastic male external genitalia Abnormal subcutaneous fat tissue distribution Aplasia/Hypoplasia of the radius Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Hyperlipidemia Poor appetite Abnormality of the vertebral column Hypertriglyceridemia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Slender build Abnormality of femur morphology Leukopenia Abnormality of the radius Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Limb pain Extramedullary hematopoiesis Corpus callosum atrophy Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Increased intracranial pressure Coxa valga Aplasia/Hypoplasia involving the skeletal musculature Splenomegaly Difficulty walking Hepatosplenomegaly Episodic vomiting Mandibular prognathia Hyperactivity Headache Fatigue Abnormality of the nervous system Adrenocortical hypoplasia Hepatomegaly Anemia Increased urinary glycerol Hyperglycerolemia Abnormal aldolase level Thick cerebral cortex Proximal muscle weakness Hypertrophic cardiomyopathy Vasculitis Delayed eruption of teeth Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Anorexia Loss of consciousness Limitation of joint mobility Sensory neuropathy Feeding difficulties in infancy Vertigo Genu valgum Pathologic fracture Carious teeth Neurological speech impairment Paralysis Ketoacidosis Central heterochromia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and High forehead, related diseases and genetic alterations