Failure to thrive, and Dental malocclusion

Diseases related with Failure to thrive and Dental malocclusion

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

Top matches:

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

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

Other less relevant matches:

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

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Dental malocclusion

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

Other less frequent symptoms

Patients with Failure to thrive and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Long nose Micrognathia Abnormal facial shape Myopia Hearing impairment Microphthalmia Delayed eruption of teeth Long eyelashes Microcephaly Hypertelorism Conductive hearing impairment Scoliosis Delayed speech and language development Short metacarpal Visual impairment Low anterior hairline Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Proptosis Telecanthus Syndactyly Dry skin Waddling gait Metaphyseal widening Thin vermilion border High palate Epicanthus Hirsutism Hyperextensible skin Triangular face Intrauterine growth retardation Underdeveloped nasal alae Neoplasm Prominent nasal bridge Frontal bossing Hypopigmentation of the skin Clinodactyly Abnormality of dental morphology Anemia Ptosis Optic atrophy Feeding difficulties Mandibular prognathia Carious teeth Genu valgum Brachydactyly Strabismus Hypoplasia of the maxilla Convex nasal ridge Platyspondyly Cleft palate Anteverted nares Wide nasal bridge Low-set ears Brachycephaly Narrow palate Delayed skeletal maturation Retrognathia Broad hallux Large central visual field defect Tibial torsion Hypoplastic inferior ilia Cryptorchidism Premature birth Cognitive impairment Overlapping toe Intestinal malrotation Autism Intellectual disability, mild Delayed gross motor development Cupped ribs Autistic behavior Highly arched eyebrow Prominent nose Broad thumb Iris hypopigmentation Severe platyspondyly Coxa vara Tibial bowing Femoral bowing Abnormality of color vision Flared metaphysis Bowing of the legs Metaphyseal irregularity Cone/cone-rod dystrophy Rhizomelia High hypermetropia Bowing of the long bones Recurrent otitis media Abnormality of the ribs Limb undergrowth Progressive visual loss Retinal dystrophy Short palm Short finger Disproportionate short stature Retinal thinning Enlarged joints Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Cone dysfunction syndrome Metaphyseal cupping Spondylometaphyseal dysplasia Optic nerve coloboma Macular atrophy Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Retinal atrophy Peripheral visual field loss Preeclampsia Thoracic scoliosis Low hanging columella Epidermal acanthosis Overbite Nausea and vomiting Abnormal autonomic nervous system physiology Increased body weight Aganglionic megacolon Sloping forehead Sepsis Abdominal distention Thick eyebrow Lethargy Failure to thrive in infancy Weight loss Abdominal pain Hypogonadism Constipation Diarrhea Vomiting Myopathy Adducted thumb Intestinal obstruction Spasticity Total colonic aganglionosis Schizophrenia Seizures Abnormality of enteric ganglion morphology Total intestinal aganglionosis Intestinal perforation Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Anteverted ears Flat occiput Central hypoventilation Enterocolitis Intestinal polyposis Neoplasm of the endocrine system Heterochromia iridis Hypoventilation Malnutrition Fever Pain Pes valgus High forehead Acanthosis nigricans Abnormal form of the vertebral bodies Choanal atresia Nyctalopia Migraine Nevus Craniosynostosis Posteriorly rotated ears Arnold-Chiari malformation Midface retrusion Malar flattening Renal insufficiency Hydrocephalus Respiratory insufficiency Posterior helix pit Mild myopia Abnormal palate morphology Abnormality of the metacarpal bones Sensorineural hearing impairment Inflammatory abnormality of the eye Ataxia Short uvula Membranous nephropathy Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Cloverleaf skull Increased intracranial pressure Choanal stenosis Turricephaly Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Glomerulonephritis Laryngomalacia Astigmatism Upslanted palpebral fissure Coloboma Skin tags Generalized hirsutism Cutis laxa Dermal atrophy Atresia of the external auditory canal Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Absent nipple Abnormality of the face Ablepharon Deeply set eye Narrow mouth Long philtrum Abnormality of the dentition Cataract Abnormality of male external genitalia Frontal hirsutism Gingival fibromatosis Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Breast aplasia Sparse or absent eyelashes Sparse and thin eyebrow Abnormality of the genital system Small hand Abnormality of epiphysis morphology Osteomalacia Rickets Hypokalemia Reduced bone mineral density Nephrocalcinosis Bone pain Nephrolithiasis Osteopetrosis Cerebral calcification Recurrent fractures Thrombocytopenia Splenomegaly Hepatomegaly Peripheral neuropathy Aseptic necrosis Abnormality of the renal tubule Depressed nasal ridge Microtia Hypertrichosis Microdontia Abnormality of the skin Ectodermal dysplasia High, narrow palate Bulbous nose Wide mouth Periodic paralysis Abnormality of the pinna Rigidity Hypospadias Short neck Talipes equinovarus Bicarbonate-wasting renal tubular acidosis Toe syndactyly Short foot Joint stiffness Flattened epiphysis Carcinoma Coarse facial features Absent palmar crease Cigarette-paper scars Moderately short stature Thenar muscle atrophy Flat capital femoral epiphysis Blepharophimosis Broad femoral neck Prominent superficial veins Irregular vertebral endplates Short femoral neck Joint contracture of the hand Short phalanx of finger Sparse hair Hip dislocation Thin skin Duodenal stenosis Hyperlordosis Photophobia Severe short stature Visual loss Nystagmus Ovarian carcinoma Macrodontia Bone marrow hypocellularity Stomach cancer Thick upper lip vermilion Chromosome breakage Ovarian neoplasm Proximal placement of thumb Breast carcinoma Abnormality of the metaphysis Blue sclerae Microcornea Sparse eyelashes Large earlobe Mild global developmental delay Spinal cord compression Narrow nose Basal ganglia calcification Hyperostosis Abnormality of dental enamel Cutaneous syndactyly of toes Dental crowding Large fontanelles Sparse scalp hair Fine hair Short palpebral fissure Overgrowth Hypoplasia of teeth Cranial hyperostosis Bifid uvula Skeletal dysplasia Hypodontia Tapered finger Bruising susceptibility Camptodactyly of finger Joint laxity Pes planus Osteopenia Broad long bones Flexion contracture 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Bipolar affective disorder


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