Feeding difficulties, and Carious teeth

Diseases related with Feeding difficulties and Carious teeth

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Carious teeth that can help you solving undiagnosed cases.

Top matches:

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

High match CAFFEY DISEASE

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

Other less relevant matches:

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Carious teeth

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Carious teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Feeding difficulties in infancy Anemia Global developmental delay Intrauterine growth retardation Motor delay Strabismus Anteverted nares Hyperlordosis Facial palsy Long philtrum High palate Low-set ears Muscle weakness Hepatosplenomegaly Growth delay Frontal bossing Intellectual disability Narrow mouth

Rare Symptoms - Less than 30% cases

Fatigue Spasticity Lumbar hyperlordosis Delayed speech and language development Poor speech Infantile muscular hypotonia Abnormal subcutaneous fat tissue distribution Ataxia Flexion contracture Gait disturbance Lipodystrophy Extramedullary hematopoiesis Renal tubular acidosis Hepatic steatosis Abnormality of the liver Elevated hepatic transaminase Difficulty walking Acidosis Proximal muscle weakness Muscular dystrophy Waddling gait Generalized hypotonia Facial paralysis Redundant skin Cortical thickening of long bone diaphyses Coarse hair Cutis laxa Congenital hip dislocation Pachygyria High myopia Abnormal isoelectric focusing of serum transferrin Polymicrogyria Postnatal growth retardation Pes planus Malar flattening Bone marrow hypocellularity Short nose Hearing impairment Downslanted palpebral fissures Optic atrophy Myopia Splenomegaly Abnormal facial shape Increased bone mineral density Microcephaly Inguinal hernia Dandy-Walker malformation Kyphoscoliosis Abnormality of the skeletal system Visual loss Proptosis Irritability Respiratory insufficiency Esophageal stricture Constipation Hernia Hyperostosis Ankyloglossia Syndactyly Alopecia Mitten deformity Delayed puberty Milia Atrophic scars Hypotrichosis Aplasia cutis congenita Nail dystrophy Hyperkeratosis Cerebral cortical atrophy Brachycephaly EEG abnormality Elevated serum creatine phosphokinase Hyporeflexia Thoracic dysplasia Congenital cataract Myalgia Dysphagia Truncal ataxia Lower limb spasticity Apraxia Generalized-onset seizure Hip dysplasia Focal-onset seizure Chorea Attention deficit hyperactivity disorder Muscle cramps Inability to walk Unsteady gait Abnormality of movement Cerebral atrophy Generalized tonic-clonic seizures Absent speech Dysarthria Dystonia Redundant neck skin Hypertelorism Skin vesicle Cerebellar hypoplasia Dementia Sparse hair Smooth philtrum Broad nasal tip Intellectual disability, profound Progressive microcephaly Lissencephaly Squamous cell carcinoma Emphysema Decreased muscle mass Generalized joint laxity Delayed closure of the anterior fontanelle Cerebellar atrophy Fragmented elastic fibers in the dermis Myopathy Tremor CNS hypomyelination Cataract Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Abnormality of the intrinsic pathway Thick hair Thick cerebral cortex Abnormality of the hair Prominent veins on trunk Prominent nasolabial fold Psychomotor deterioration Excessive wrinkled skin Scapular winging Impulsivity Limb-girdle muscular dystrophy Metaphyseal dysplasia Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Elevated erythrocyte sedimentation rate Slender build Reduced subcutaneous adipose tissue Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Increased intracranial pressure Leukopenia Abnormality of the ulna Abnormality of tibia morphology Vasculitis Abnormality of the radius Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Limb pain Abnormality of femur morphology Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Coxa valga Bone pain Gowers sign Recurrent ear infections Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Speech apraxia Skeletal muscle atrophy Achalasia Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Athetosis Secondary hyperparathyroidism Exophoria Kyphosis Diplopia Neurological speech impairment Anorexia Limitation of joint mobility Delayed eruption of teeth Sensory neuropathy Vertigo Genu valgum Paralysis Headache Hypertrophic cardiomyopathy Abnormality of the nervous system Skeletal dysplasia Mandibular prognathia Glaucoma Hyperactivity Hypogonadism Sandwich appearance of vertebral bodies Retinal atrophy Progressive macrocephaly Hemophagocytosis Fructose intolerance Hyperuricosuria Proximal renal tubular acidosis Hypergalactosemia Disseminated intravascular coagulation Hypersomnia Proximal tubulopathy Transient aminoaciduria Hyperphosphaturia Recurrent hypoglycemia Ketosis Neonatal hypoglycemia Short palm Hyperuricemia Bicarbonaturia Micrognathia Glycosuria Apnea Round face Full cheeks Abnormality of the foot Protruding ear Behavioral abnormality Camptodactyly Carcinoma Facial asymmetry Hyperhidrosis Clinodactyly Severe short stature Peripheral neuropathy Depressed nasal bridge Polyhydramnios Prolonged neonatal jaundice Hypophosphatemia Sensorimotor neuropathy Tibial bowing Bowing of the legs Jaundice Leukocytosis Abdominal pain Vomiting Increased antibody level in blood Cellulitis Disproportionate short-limb short stature Restlessness Cortical irregularity Periosteal thickening of long tubular bones Hyperesthesia Thrombocytosis Anasarca Hypoglycemia Lethargy Malnutrition Gastrointestinal hemorrhage Hypokalemia Shock Hyperbilirubinemia Meningitis Decreased liver function Aciduria Coma Lactic acidosis Metabolic acidosis Nephropathy Hydrops fetalis Hepatic failure Cirrhosis Nausea Edema Elbow flexion contracture Fragile skin Brittle hair Macrocephaly Oral mucosal blisters Nystagmus Abnormality of the anus Oxycephaly Severe intrauterine growth retardation Prominent supraorbital ridges Blindness Growth abnormality Osteoporosis Respiratory failure Dyspnea Wide anterior fontanel Large fontanelles Hydrocephalus Decreased antibody level in blood Sepsis Osteomyelitis Tetany Choanal stenosis Osteopetrosis Calvarial hyperostosis Hyperparathyroidism Pathologic fracture Flared metaphysis Pancytopenia Ophthalmoparesis Elevated alkaline phosphatase Coxa vara Hypocalcemia Corneal erosion Aganglionic megacolon Dilated cardiomyopathy Nail dysplasia Abnormal autonomic nervous system physiology Renal cell carcinoma Fever Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Limited elbow extension Congenital localized absence of skin Opisthotonus 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Scaling skin Poor suck Junctional split Laryngeal stridor Flat face Hoarse voice Abnormal blistering of the skin Joint hypermobility Confusion Hip dislocation Dehydration Hypoplasia of dental enamel Midface retrusion Muscular hypotonia Recurrent skin infections Pyloric stenosis Onycholysis Squamous cell carcinoma of the skin Skin erosion Laryngeal stenosis Paronychia Elevated aldolase level


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