Feeding difficulties, and Delayed eruption of teeth

Diseases related with Feeding difficulties and Delayed eruption of teeth

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

Top matches:

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

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Other less relevant matches:

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

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Medium match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

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

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Delayed eruption of teeth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Midface retrusion Short nose Mandibular prognathia Conductive hearing impairment Hearing impairment Short stature Prominent forehead Abnormality of the vertebral column Abnormal facial shape Hydrocephalus Cleft palate Scoliosis Downslanted palpebral fissures Abnormality of cardiovascular system morphology Sparse hair Thick vermilion border Feeding difficulties in infancy Ventriculomegaly Strabismus Sparse scalp hair Anteverted nares Hyperactivity Generalized hypotonia

Rare Symptoms - Less than 30% cases

Dandy-Walker malformation Optic atrophy Eczema Hypertension Proptosis Broad forehead Sensorineural hearing impairment Muscular hypotonia Motor delay Toe syndactyly Wide mouth Coarse facial features Intrauterine growth retardation Micrognathia Visual impairment Macroglossia Short distal phalanx of finger Stereotypy Hypoplasia of the maxilla Increased intracranial pressure Hoarse voice High forehead Failure to thrive Headache Atrial septal defect Delayed puberty Ataxia Talipes equinovarus Taurodontia Neurological speech impairment Low-set ears Gait disturbance High palate Hypertrichosis Microcephaly Constipation Metaphyseal dysplasia Kyphosis Gastroesophageal reflux Pectus excavatum Hyperostosis Chronic otitis media Clinodactyly of the 5th finger Anxiety Abnormality of pelvic girdle bone morphology Tinnitus Facial palsy Brachydactyly Epicanthus Macrocephaly Wide nasal bridge Sclerosis of skull base Pes planus Cranial nerve compression Long philtrum Arnold-Chiari malformation Short philtrum Attention deficit hyperactivity disorder Delayed speech and language development High, narrow palate Anemia Single transverse palmar crease Tics Periventricular leukomalacia Short foot Diaphragmatic eventration Testicular torsion Muscle weakness Pain Small hand Growth delay Skeletal muscle atrophy Flexion contracture Clinodactyly Large forehead Hypogonadism Splenomegaly Fatigue Hypoplasia of the corpus callosum Hepatomegaly Absent speech Hernia Arachnoid cyst High anterior hairline Metopic synostosis Plantar pits Odontogenic keratocysts of the jaw Thickened ears Thin upper lip vermilion Hip dysplasia Small nail Retrognathia Broad nasal tip Ovarian fibroma Calcification of falx cerebri Palmar pits Kyphoscoliosis Aggressive behavior Thick lower lip vermilion Tapered finger Wormian bones Cardiac fibroma Narrow palpebral fissure Posteriorly rotated ears Plagiocephaly Low-set, posteriorly rotated ears Deep philtrum Abnormality of the hand Short middle phalanx of finger Infantile spasms Finger clinodactyly Vasculitis Glaucoma Obesity Synophrys Joint stiffness Deeply set eye EEG abnormality Hypothyroidism Brachycephaly Upslanted palpebral fissure Hyporeflexia Myopia Retinal detachment Peripheral neuropathy Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cleft upper lip Sleep disturbance Limb pain Hand polydactyly Abnormal tracheobronchial morphology Hyperacusis Delayed eruption of primary teeth Large face Abnormal localization of kidney Abnormality of the ureter Impaired pain sensation Self-injurious behavior Failure to thrive in infancy Microcornea Precocious puberty Tented upper lip vermilion Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Hypercholesterolemia Abnormal form of the vertebral bodies Open mouth Hypertriglyceridemia Decreased fetal movement Abnormality of the radius Cranial hyperostosis Skeletal dysplasia Vertigo Increased bone mineral density Bone pain Diplopia Anorexia Lumbar hyperlordosis Waddling gait Limitation of joint mobility Sensory neuropathy Genu valgum Medulloblastoma Carious teeth Muscular dystrophy Paralysis Hyperlordosis Hypertrophic cardiomyopathy Abnormality of the nervous system Proximal muscle weakness Difficulty walking Hepatosplenomegaly Bone marrow hypocellularity Coxa valga Lower limb pain Facial paralysis Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Slender build Abnormality of the ulna Leukopenia Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Cachexia Easy fatigability Rhabdomyosarcoma Choanal atresia Basal cell carcinoma Fever Respiratory tract infection Hyperhidrosis Recurrent respiratory infections Immunodeficiency Abnormality of the dentition Intellectual disability, severe Respiratory distress Lacrimal duct aplasia Dry skin Aplasia/Hypoplasia of the distal phalanges of the hand Delayed eruption of permanent teeth Abnormal corpus callosum morphology Long eyelashes Wide nose Hirsutism Thick eyebrow Hypotrichosis Everted lower lip vermilion Delayed skeletal maturation Short chin Aplasia/Hypoplasia of the eyebrow Anhidrosis Absent eyebrow Brittle hair Prominent supraorbital ridges Dysphonia Sparse eyelashes Type I diabetes mellitus Hypodontia Sparse and thin eyebrow Hypohidrosis Thin skin Depressed nasal ridge Microdontia Underdeveloped nasal alae Ectodermal dysplasia Cerebellar hypoplasia Abnormal heart morphology Sparse body hair Infantile muscular hypotonia Molybdenum cofactor deficiency Generalized dystonia Restlessness Basal ganglia calcification Agitation Ectopia lentis Hemiplegia Aspiration Decreased urinary sulfate Choreoathetosis Fine hair Cerebellar vermis hypoplasia Irritability Gait ataxia Dystonia Hypertonia Sulfite oxidase deficiency Increased urinary sulfite Bony paranasal bossing Nasal obstruction Club-shaped distal femur Asymmetry of the mandible Calvarial osteosclerosis Bilateral facial palsy Unilateral facial palsy Erlenmeyer flask deformity of the femurs Abnormality of the nasopharynx Misalignment of teeth Blindness Mixed hearing impairment Osteomyelitis Flared metaphysis Metaphyseal widening Increased susceptibility to fractures Overgrowth Otitis media Agenesis of permanent teeth Hypoplastic nipples Large for gestational age Large fontanelles Corneal erosion Esophageal atresia Aplasia/Hypoplasia of the thumb Ovarian neoplasm Absent septum pellucidum Vertebral segmentation defect Narrow palate Broad thumb Cloverleaf skull Convex nasal ridge Bifid uvula Flat face Micromelia Facial asymmetry Finger syndactyly Agenesis of corpus callosum Ectopic anus Brachyturricephaly Choroid plexus carcinoma Retinopathy Nephroblastoma Trigonocephaly Accelerated skeletal maturation Tall stature Abnormality of the ribs Oral cleft Joint hyperflexibility Umbilical hernia Morphological abnormality of the semicircular canal Narrow mouth Polydactyly Microphthalmia Short neck Cataract Acrobrachycephaly Cervical C5/C6 vertebrae fusion Respiratory insufficiency Choroid plexus papilloma Rhinitis Anhidrotic ectodermal dysplasia Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Absent nipple Cryptorchidism Concave nail Anterior hypopituitarism Conical tooth Heat intolerance Anodontia Soft skin Absent eyelashes Neoplasm Abnormality of the skeletal system Papilloma Sleep apnea Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Upper limb undergrowth Loss of consciousness Nausea Vomiting Apnea Carcinoma Hydronephrosis Micropenis Respiratory failure Pneumonia Depressivity Recurrent infections Corticospinal tract hypoplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Single transverse palmar crease, related diseases and genetic alterations Flexion contracture and Nephrotic syndrome, related diseases and genetic alterations Strabismus and Depressivity, related diseases and genetic alterations Sensorineural hearing impairment and Arthrogryposis multiplex congenita, related diseases and genetic alterations Scoliosis and Corneal opacity, related diseases and genetic alterations Microcephaly and Hyperreflexia, related diseases and genetic alterations