Feeding difficulties, and Microdontia

Diseases related with Feeding difficulties and Microdontia

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Other less relevant matches:

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

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

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Medium match MOEBIUS SYNDROME

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Top 5 symptoms//phenotypes associated to Feeding difficulties and Microdontia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Micrognathia Depressed nasal bridge Cleft palate Generalized hypotonia Epicanthus Motor delay Recurrent otitis media Hypodontia Intrauterine growth retardation Thin upper lip vermilion Growth delay Short stature Microtia Strabismus Failure to thrive Hypoplasia of the maxilla Narrow mouth Ectodermal dysplasia Sparse hair Abnormal heart morphology Dry skin Sparse scalp hair Widely spaced teeth Nystagmus Prominent forehead

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Intellectual disability, severe Talipes equinovarus Blepharitis Prominent nose Hoarse voice Sparse eyelashes Short palpebral fissure Hypohidrosis Respiratory distress Hypotrichosis Thin eyebrow Sepsis Cryptorchidism Low-set ears Ptosis Micropenis Blepharophimosis Abnormality of the nervous system Delayed myelination Thick vermilion border Hyperactivity Everted lower lip vermilion Proteinuria Absent eyebrow Hypertension Wide nasal bridge Immunodeficiency Feeding difficulties in infancy Coarse facial features Posteriorly rotated ears Clinodactyly Heat intolerance Brachydactyly Absent eyelashes Hypertelorism Conical tooth Thin skin Abnormal cardiac septum morphology Syndactyly Scoliosis Neoplasm Wide mouth Hypermetropia High palate Long philtrum Myopia Otitis media Sparse body hair Agenesis of permanent teeth Anhidrosis Abnormal facial shape Brittle hair Corneal opacity Facial palsy Ophthalmoplegia Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Muscular hypotonia Vaginal dryness Otitis externa Fibrous syngnathia Finger syndactyly Dysphagia Skeletal muscle atrophy Visual impairment Autism Pustule 3-4 toe syndactyly Fine hair Conjunctivitis Increased body weight Sinusitis Hyperpigmentation of the skin Choanal atresia Split hand Inflammatory abnormality of the skin Small nail Erythroderma Palmoplantar keratoderma Cleft upper lip Oral cleft Toe syndactyly Nail dystrophy Scarring Camptodactyly Atresia of the external auditory canal Hammertoe Bilateral choanal atresia Skin erosion Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Orthokeratosis Plantar hyperkeratosis Selective tooth agenesis 2-3 toe syndactyly Pili torti Trismus Chronic sinusitis Hypogonadotrophic hypogonadism Ectrodactyly Keratoconjunctivitis sicca Supernumerary nipple Anonychia Open mouth Deeply set eye Cranial nerve paralysis Dilated cardiomyopathy Tubular atrophy Verrucae Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Seborrheic keratosis Numerous pigmented freckles Cardiomyopathy Atrial septal defect Intellectual disability, mild Microphthalmia Hypothyroidism Joint laxity Postnatal growth retardation Talipes Neoplasm of the skin Bulbous nose Amblyopia Macular degeneration Torticollis Abnormality of the outer ear Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Epicanthus inversus Abnormal palmar dermatoglyphics Neonatal asphyxia Freckling Bone marrow hypocellularity Reduced number of teeth Anemia Abnormality of the voice Mask-like facies Multiple cafe-au-lait spots Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the radius Abnormality of the ulna Breast aplasia Absent hand Abnormality of the sense of smell Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the tongue Aplasia of the pectoralis major muscle Ataxia Sensorineural hearing impairment Flexion contracture Cafe-au-lait spot Astigmatism Decreased body weight Cutaneous photosensitivity Chorea Brain atrophy Progressive cerebellar ataxia Muscle cramps Papule Tremor Erythema Photophobia Dementia Cerebral atrophy Renal insufficiency Cerebellar atrophy Cleft lip Microcornea Conductive hearing impairment Hyperhidrosis Prominent metopic ridge Mild global developmental delay Patellar aplasia Irregular epiphyses Hypoplasia of the capital femoral epiphysis Small earlobe Toe clinodactyly Birth length less than 3rd percentile Irregular femoral epiphysis Fever Frontal bossing Short nose Recurrent respiratory infections Respiratory tract infection Elbow dislocation Short distal phalanx of finger Delayed eruption of teeth Underdeveloped nasal alae Eczema Depressed nasal ridge Sparse and thin eyebrow Type I diabetes mellitus Short chin Dysphonia Prominent supraorbital ridges Aplasia/Hypoplasia of the eyebrow Hypoplastic nipples Rhinitis Soft skin Slender long bone Triangular face Anodontia Broad philtrum Prominent nasal bridge Broad thumb Fragile nails Premature loss of primary teeth Downslanted palpebral fissures Abnormality of the skeletal system Constipation Craniosynostosis Neurological speech impairment Thick eyebrow Wide nose Arnold-Chiari malformation Trigonocephaly Sagittal craniosynostosis Gastroesophageal reflux Small pituitary gland Seizures Spasticity Recurrent infections Anxiety Unsteady gait Asthma Hypsarrhythmia Narrow palpebral fissure Oligodontia Eosinophilia Myopathic facies Delayed ability to walk Delayed skeletal maturation Taurodontia Anterior hypopituitarism Hyperkeratosis Fasting hypoglycemia Hyperinsulinemia Precocious puberty Lipodystrophy Clitoral hypertrophy Hyperglycemia Flat occiput Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Ketoacidosis Long foot Abnormality of the optic nerve Thick nail Long penis Narrow face Advanced eruption of teeth Choroideremia Abnormal lip morphology Diabetic ketoacidosis Chorioretinal dystrophy Muscle flaccidity Postprandial hyperglycemia Abnormality of upper lip Onychauxis Pain Ventricular septal defect Hypospadias Patent ductus arteriosus Alopecia Acanthosis nigricans Preauricular skin tag Concave nail Dyspnea Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Optic atrophy Upslanted palpebral fissure Brachycephaly Respiratory failure Mandibular prognathia Retrognathia Insulin resistance Hypoglycemia Telecanthus Short philtrum Small for gestational age Smooth philtrum Arachnodactyly Long face Thin vermilion border Hirsutism High, narrow palate Abdominal distention Specific learning disability Epidermal acanthosis Hypertrichosis Multiple bladder diverticula


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Gliosis, related diseases and genetic alterations