Failure to thrive, and Delayed eruption of teeth

Diseases related with Failure to thrive and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Failure to thrive and Delayed eruption of teeth that can help you solving undiagnosed cases.

Top matches:

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Medium match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Other less relevant matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Medium match BARBER-SAY SYNDROME

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi|vitamin d-dependency type i|vddr-i|vitamin d-dependent rickets, type 1a|vitamin d dependency, type 1|pddr1a|1-alpha, 25-hydroxyvitamin d3 deficiency, selective|25-hydroxycholecalciferol-1-hydroxylase deficiency|pddr ia|1-alpha-hydroxylase deficiency|

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Delayed eruption of teeth

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Abnormality of dental enamel High palate Seizures Thin vermilion border Generalized hypotonia Skeletal dysplasia Motor delay Scoliosis Hearing impairment Intellectual disability Dental malocclusion Low-set ears Microdontia Abnormal facial shape Downslanted palpebral fissures Hypertelorism

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Conductive hearing impairment Triangular face Kyphosis Prominent forehead Cleft palate Macrocephaly Abnormality of skin pigmentation Postnatal growth retardation Joint hyperflexibility Recurrent fractures Low anterior hairline Abnormality of the metaphysis Midface retrusion Clinodactyly Severe short stature Delayed skeletal maturation Hypoplasia of the maxilla Muscular hypotonia Hypertrichosis Intrauterine growth retardation Decreased body weight Myopia Wide mouth Generalized hirsutism Blue sclerae Gingival fibromatosis Anteverted nares Wide nasal bridge Telecanthus Underdeveloped nasal alae Basal ganglia calcification Large fontanelles Cataract Delayed speech and language development Long philtrum Small for gestational age Proptosis Long nose Pes planus Gastroesophageal reflux Joint laxity Hypoplasia of teeth Bifid uvula Bruising susceptibility Fine hair Edema Irritability Hyperextensible skin Craniosynostosis Large earlobe Mild global developmental delay Abnormal form of the vertebral bodies Abnormality of the ribs Spinal cord compression Absent palmar crease Narrow nose Brachydactyly Hyperostosis Abnormality of dental morphology Sparse eyelashes Short palpebral fissure Cutaneous syndactyly of toes Hydrocephalus Sparse scalp hair Dental crowding Thenar muscle atrophy Cranial hyperostosis Prominent superficial veins Waddling gait Short metacarpal Hypodontia Tapered finger Platyspondyly Short phalanx of finger Camptodactyly of finger Joint contracture of the hand Metaphyseal widening Short femoral neck Irregular vertebral endplates Flexion contracture Cigarette-paper scars 2-4 toe cutaneous syndactyly Broad femoral neck 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Flat capital femoral epiphysis Flattened epiphysis Thin skin Moderately short stature Persistent pupillary membrane Broad long bones Bowing of the long bones Communicating hydrocephalus Hydrops fetalis Cryptorchidism Carious teeth Narrow chest Prominent nasal bridge Sparse hair Thin upper lip vermilion Malar flattening Optic atrophy Subperiosteal bone resorption Smooth philtrum Bulging of the costochondral junction Deformed rib cage Secondary hyperparathyroidism Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Enlargement of the costochondral junction Abdominal wall muscle weakness Pulmonic stenosis Wide nose Fibular bowing Decreased skull ossification Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Delayed closure of the anterior fontanelle Capillary hemangioma Prominent nose Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Hemangioma Wide anterior fontanel Hyperpigmentation of the skin Esotropia Enlargement of the wrists Widely patent fontanelles and sutures Wormian bones Vertebral compression fractures Inability to walk Malabsorption Difficulty walking Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Coronal craniosynostosis Bone pain Shallow orbits Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture High pitched voice Abnormality of the voice Increased susceptibility to fractures Hypoplasia of dental enamel Hypocalcemia Hypocalcemic seizures Osteomalacia Difficulty standing Generalized aminoaciduria Hypophosphatemic rickets Thin bony cortex Elevated circulating parathyroid hormone level Delayed epiphyseal ossification Protuberant abdomen Hyperparathyroidism Aminoaciduria Tibial bowing Femoral bowing Hypophosphatemia Bowing of the legs Flat occiput Metaphyseal irregularity Rickets Elevated alkaline phosphatase Overgrowth Taurodontia Microcornea Molybdenum cofactor deficiency Arthritis Hyperkeratosis Diabetes mellitus Increased urinary sulfite Decreased urinary sulfate Sulfite oxidase deficiency Generalized dystonia Retinopathy Restlessness Agitation Ectopia lentis Hemiplegia Infantile muscular hypotonia Aspiration Pallor Full cheeks Cerebellar vermis hypoplasia Abnormal anterior chamber morphology Behavioral abnormality Ptosis Microcephaly Enlarged labia minora Axenfeld anomaly Angiokeratoma Juvenile rheumatoid arthritis Pigmentary retinopathy Telangiectasia of the skin Rheumatoid arthritis Osteolysis Narrow palate Abnormality of retinal pigmentation Telangiectasia Optic disc pallor Choreoathetosis Eczema Abnormality of metabolism/homeostasis Confusion Hypoalbuminemia Hypercholesterolemia Hyperlipidemia Nephrotic syndrome Abdominal distention Stage 5 chronic kidney disease Scarring Glomerulosclerosis Respiratory tract infection Abnormality of the kidney Proteinuria Hypothyroidism Recurrent infections Renal insufficiency Pyloric stenosis Neonatal respiratory distress Gait ataxia Elevated amniotic fluid alpha-fetoprotein Dystonia Hypertonia Feeding difficulties Ataxia Heavy proteinuria Podocyte foot process effacement Mesangial hypercellularity Focal segmental glomerulosclerosis Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Delayed eruption of permanent teeth Diffuse mesangial sclerosis Abnormality of the renal tubule Hypoproteinemia Tubular atrophy Intellectual disability, mild Clinodactyly of the 5th finger Short foot Cupped ear Skin tags Inverted nipples Shawl scrotum Hypoplastic nipples Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the eyebrow Ectropion Sparse or absent eyelashes Sparse eyebrow Redundant skin Atresia of the external auditory canal Dermal atrophy Cutis laxa Sparse and thin eyebrow Absent nipple Breast aplasia Abnormality of the genital system Syndactyly Small hand Toe syndactyly Deeply set eye Narrow mouth Brachycephaly Microphthalmia Abnormality of the dentition Broad alveolar ridges Epicanthus Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Abnormality of the face Depressed nasal ridge Osteoporosis Insulin resistance Abnormality of the mouth Severe intrauterine growth retardation Truncal obesity Congenital sensorineural hearing impairment Radial deviation of finger Cafe-au-lait spot Low posterior hairline Short attention span Bilateral sensorineural hearing impairment Single transverse palmar crease Attention deficit hyperactivity disorder Hypoglycemia Hyperactivity Hypogonadism Severe postnatal growth retardation Concave nasal ridge Abnormality of the skin Abnormality of the pinna Ectodermal dysplasia High, narrow palate Hirsutism Bulbous nose Dry skin Microtia Rigidity Neonatal hyperbilirubinemia Mandibular prognathia Hypospadias Short neck Talipes equinovarus Congenital bilateral ptosis Small placenta Prelingual sensorineural hearing impairment Forehead hyperpigmentation


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