Frontal bossing, and Diabetes mellitus

Diseases related with Frontal bossing and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Frontal bossing and Diabetes mellitus 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

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Other less relevant matches:

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

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

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

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION 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

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Diabetes mellitus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Delayed eruption of teeth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypotrichosis Depressed nasal bridge Hypertelorism Short stature Scoliosis Low-set ears Abnormal facial shape Micrognathia Epicanthus Cataract Bilateral sensorineural hearing impairment Sparse hair Clinodactyly Hearing impairment High forehead Short chin Anodontia Type I diabetes mellitus Microdontia Sparse and thin eyebrow Downslanted palpebral fissures Thin skin Aplasia/Hypoplasia of the eyebrow Hypothyroidism Hypodontia

Rare Symptoms - Less than 30% cases

Periorbital wrinkles Optic atrophy Dysarthria Peripheral neuropathy Gait disturbance Periorbital hyperpigmentation Absent nipple Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Heat intolerance Alopecia Brachydactyly Sparse body hair Soft skin Hypoplastic nipples Posteriorly rotated ears Generalized hypotonia Depressivity Retrognathia Failure to thrive Wide nasal bridge Myopia Triangular face Dental malocclusion Prominent supraorbital ridges Sparse scalp hair Behavioral abnormality Underdeveloped nasal alae Hypoplasia of the maxilla Prominent forehead Kyphoscoliosis Pes planus Hypogonadism Abnormality of the dentition Feeding difficulties Sensorineural hearing impairment Facial asymmetry Bulbous nose Insulin-resistant diabetes mellitus Hypergonadotropic hypogonadism Long fingers Polyneuropathy Sensory neuropathy Absent eyebrow Mental deterioration Anhidrosis Anterior hypopituitarism Agenesis of permanent teeth Vomiting Decreased body weight Hyperlipidemia Protruding ear Coma Downturned corners of mouth Osteoporosis Malar flattening Short palm Cryptorchidism Strabismus Macrocephaly Diarrhea High palate Camptodactyly Proptosis Hypertrichosis Small for gestational age Depressed nasal ridge Short distal phalanx of finger Ectodermal dysplasia Hypertension Everted lower lip vermilion Thick vermilion border Hypohidrosis Hepatomegaly Hyperhidrosis Corneal opacity Hoarse voice Sparse eyelashes Unicornuate uterus Pancreatic aplasia Cognitive impairment Hyperreflexia Dystonia Pica Renal insufficiency Recurrent urinary tract infections Intellectual disability, mild Metacarpal osteolysis Sclerotic cranial sutures Metatarsal osteolysis Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Abnormality of metabolism/homeostasis Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Babinski sign Ureteral atresia Hypoplasia of the bladder Aplasia of the vagina Elevated hepatic transaminase Stage 5 chronic kidney disease Short foot Hypermetropia Nail dystrophy Highly arched eyebrow Horizontal nystagmus Oligohydramnios Multicystic kidney dysplasia Hydronephrosis Renal hypoplasia/aplasia Schizophrenia Focal impaired awareness seizure Language impairment Unilateral renal agenesis Shawl scrotum Cerebral atrophy Hyperechogenic kidneys Large fontanelles Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Long toe Upper limb undergrowth Autism Small nail Mandibular prognathia Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Renal hypoplasia Streak ovary Micropenis Abnormality of the face Radial deviation of finger Lipodystrophy Opacification of the corneal stroma Abnormality of dental enamel Nephrocalcinosis Congenital hip dislocation Increased body weight Insulin resistance Abnormality of the skin Glucose intolerance Microcornea Joint hypermobility Joint hyperflexibility Hip dislocation Neurological speech impairment Telecanthus Joint laxity Deeply set eye Hyperglycemia Congenital glaucoma Weight loss Dimple chin Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Abnormal pupil morphology Reduced subcutaneous adipose tissue Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Megalocornea Poor appetite Abnormality of the immune system Lipoatrophy Macrotia Glaucoma Prominent nasal bridge Fine hair Sparse eyebrow Premature ovarian insufficiency Purpura Hypogonadotrophic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Psychosis Hypoplasia of the uterus Abnormality of extrapyramidal motor function Dehydration Amenorrhea Decreased testicular size Prominent nose Abnormality of movement Delayed puberty Arthrogryposis multiplex congenita Flat occiput Autoimmune thrombocytopenia Severe short stature Progressive alopecia Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Hernia Midface retrusion Intrauterine growth retardation Nystagmus Microcephaly Hypoplasia of the fallopian tube Heart block Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Finger swelling Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Severe generalized osteoporosis Thoracic kyphoscoliosis C1-C2 subluxation Unsteady gait Pigmentary retinopathy Migraine Sensory impairment Distal sensory impairment Cirrhosis Nausea Peripheral axonal neuropathy Confusion Status epilepticus Retinopathy Abnormality of the liver Irritability Photophobia Gait ataxia Rod-cone dystrophy Encephalopathy Type II diabetes mellitus Intention tremor Tremor Iris hypopigmentation Immunodeficiency Short nose Intellectual disability, severe Respiratory distress Fever Biliary tract abnormality Fat malabsorption Atrophy/Degeneration affecting the brainstem Hemiparesis Agitation Apathy Spastic paraparesis Paraparesis Bilateral single transverse palmar creases Sensorimotor neuropathy Cholestasis Headache Visual impairment Respiratory tract infection Chronic diarrhea Myopathy Growth delay Interstitial pneumonitis Chronic lung disease Prominent occiput Relative macrocephaly Abnormal intestine morphology Abnormal lung morphology Hypoglycemia Hepatitis Asthma Malabsorption Dolichocephaly Autoimmunity Respiratory failure Splenomegaly Acidosis Muscular dystrophy Spasticity Congenital adrenal hypoplasia Ataxia Palmoplantar hyperkeratosis Oligodontia Hyperkeratosis Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Episodic vomiting Lethargy Adrenal hypoplasia Ketoacidosis Pathologic fracture Loss of consciousness Adrenal insufficiency Hypertriglyceridemia Metabolic acidosis Recurrent respiratory infections Dry skin Contractures of the large joints Hirsutism Knee flexion contracture Gingival overgrowth Thickened skin Subcutaneous nodule Split hand Interphalangeal joint contracture of finger Small hand Arthritis Metaphyseal widening Arthralgia Coarse facial features Osteopenia Brachycephaly Pes cavus Kyphosis Flexion contracture Osteolysis Abnormality of the thorax Laryngotracheomalacia Vertebral compression fractures Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Antinuclear antibody positivity Hypermelanotic macule Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Severe expressive language delay Hypoplastic helices Eczema Aplasia/Hypoplastia of the eccrine sweat glands Hyperlordosis Anxiety Thin upper lip vermilion Constipation Abnormality of the skeletal system Ptosis Hypoplastic-absent sebaceous glands Abnormal oral mucosa morphology Renal agenesis Concave nail Conical tooth Taurodontia Absent eyelashes Rhinitis Brittle hair Dysphonia Pectus carinatum Lumbar hyperlordosis Mild myopia Disproportionate tall stature Ureteral stenosis Expressive language delay Vertebral clefting Hyperplasia of the maxilla Long hallux Small face Maternal diabetes Overlapping toe Open mouth Optic nerve hypoplasia Narrow palate Pointed chin Exotropia Stereotypy Dental crowding Clumsiness Mitral regurgitation Abnormality of the zygomatic bone


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