Failure to thrive, and Astigmatism

Diseases related with Failure to thrive and Astigmatism

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

Top matches:

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

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Other less relevant matches:

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Astigmatism

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hearing impairment Muscular hypotonia Generalized hypotonia Postnatal growth retardation Hypoplasia of the corpus callosum Myopia Intrauterine growth retardation Scoliosis Motor delay Hypertelorism Anteverted nares Micropenis Nystagmus Severe short stature Frontal bossing Microphthalmia Broad forehead Aganglionic megacolon Short palm Macrocephaly Delayed skeletal maturation Wide nasal bridge Long philtrum Low-set ears Ventriculomegaly Hypertension Gastroesophageal reflux Hypermetropia Triangular face Platyspondyly Convex nasal ridge Cyanosis Posteriorly rotated ears Micrognathia Respiratory distress Brachydactyly

Rare Symptoms - Less than 30% cases

Coloboma Rhizomelia Intestinal obstruction Bicuspid aortic valve Epidermal acanthosis Short neck Intellectual disability, severe Hypocalcemia Recurrent urinary tract infections Abdominal distention Mandibular prognathia Infertility Recurrent bacterial infections Downslanted palpebral fissures Feeding difficulties in infancy Fibroma Low posterior hairline Hernia Scrotal hypoplasia Epicanthus Abnormality of dental enamel Retrognathia Muscle weakness High forehead Recurrent respiratory infections Cleft palate Abnormality of the dentition Myopathy High palate Hypospadias Gait ataxia Autism Hypogonadism Thin upper lip vermilion Hypoparathyroidism Deeply set eye Abnormal eyelid morphology Low-set, posteriorly rotated ears Corneal opacity Small for gestational age Small hand Prominent superficial veins Tetany Growth hormone deficiency Metaphyseal widening Neoplasm Scaphocephaly Coarse hair Atrial septal defect Photophobia Hyperpigmentation of the skin Lymphedema Opacification of the corneal stroma Intellectual disability, moderate Hepatosplenomegaly Absent septum pellucidum Umbilical hernia Specific learning disability Macrotia Abnormality of the foot Abnormality of the ribs Sparse hair Cerebellar hypoplasia Inguinal hernia Cardiomyopathy Edema Nevus Short palpebral fissure Prominent forehead Polyhydramnios Abnormality of the pinna Oligohydramnios Short nose Abnormality of cardiovascular system morphology Alopecia Agenesis of corpus callosum Thick vermilion border Ascites Proptosis Pulmonary hypoplasia Wide intermamillary distance Abnormality of temperature regulation Corneal scarring Cerebral cortical hemiatrophy Cheilitis Paronychia Recurrent corneal erosions Thin fingernail Episcleritis Scleritis Hyperconvex fingernails Thin eyebrow Alopecia universalis Olivopontocerebellar atrophy Alopecia totalis Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Abnormality of the upper urinary tract Abnormal nasolacrimal system morphology Oxycephaly Corneal erosion Hypoplasia of the bladder Subcortical cerebral atrophy Urticaria Absent eyelashes Hip dislocation Camptodactyly Developmental regression Respiratory tract infection Erythema Scarring Camptodactyly of finger Papule Mental deterioration Nail dystrophy Hypotrichosis Talipes Dry skin Ichthyosis Postaxial polydactyly Palmoplantar keratoderma Abnormality of the kidney Hydronephrosis Ectodermal dysplasia Flexion contracture Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Broad fingertip Triangular nasal tip Overhanging nasal tip Kyphosis Hyperkeratosis Immunodeficiency Dilatation Recurrent infections Dementia Hyperhidrosis Cerebral cortical atrophy Polydactyly Brain atrophy Nail dysplasia Abnormal eyelash morphology Congenital ichthyosiform erythroderma Bifid scrotum Keratitis Absent eyebrow Hydroureter Mixed hearing impairment Abnormality of the vertebral column Atonic seizures Erythroderma Ectrodactyly Oligodactyly Submucous cleft hard palate Uveitis Parakeratosis Alopecia of scalp Blepharitis Unilateral renal agenesis Psoriasiform dermatitis Postaxial hand polydactyly Abnormal vertebral morphology Eczema Choanal atresia Omphalocele Renal dysplasia Hypoplasia of dental enamel Hypohidrosis Abnormality of the hair Scaling skin Abnormality of the nail Multicystic kidney dysplasia Hemivertebrae Conjunctivitis Plagiocephaly Abnormality of the hand Ichthyosis follicularis Abnormal pelvis bone morphology Mitral regurgitation Unilateral chest hypoplasia Intestinal malrotation Oligodontia Generalized hirsutism Low anterior hairline Wide anterior fontanel Left ventricular hypertrophy Pachygyria Heterotopia Hypertrichosis Sparse scalp hair Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Microdontia Sepsis Abnormality of vision Hypoplasia of the maxilla Everted lower lip vermilion High, narrow palate Short distal phalanx of finger Smooth philtrum Synophrys Craniosynostosis Abnormality of the eye Conductive hearing impairment Narrow mouth Brachycephaly Abnormal heart morphology Patent ductus arteriosus Midface retrusion Abnormality of the metacarpal bones Redundant skin Intellectual disability, mild Premature skin wrinkling Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Recurrent aspiration pneumonia Absence of subcutaneous fat Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Deep palmar crease Sclerocornea Aortic aneurysm Coronal craniosynostosis Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Protruding tongue Hypoplastic nipples Prematurely aged appearance Anteriorly placed anus Natal tooth Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Tricuspid regurgitation Large hands Syndactyly Hydrocephalus Ptosis Abnormal bleeding Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Cafe-au-lait spot Square face Fine hair Epistaxis Hip dysplasia Esotropia Webbed neck Lymphoma Highly arched eyebrow Poor suck Bruising susceptibility Falls Joint hypermobility Pulmonic stenosis Leukemia Pectus carinatum Joint laxity Pectus excavatum Thrombocytopenia Splenomegaly Gait disturbance Optic atrophy Delayed speech and language development Cognitive impairment Deep philtrum Cholelithiasis Respiratory insufficiency Chylothorax Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Hypochromic microcytic anemia Failure to thrive in infancy Abnormality of the spleen B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Bilateral ptosis Small cerebral cortex Apnea Large beaked nose Amelogenesis imperfecta Hypermagnesiuria Renal magnesium wasting Renal potassium wasting Hyposthenuria Chorioretinitis Enuresis nocturna Persistence of primary teeth Chondrocalcinosis Enuresis Oligospermia Hypomagnesemia Ankylosis Abnormality of lipid metabolism Renal calcium wasting Acute kidney injury Renal tubular acidosis Hyperuricemia Male infertility Polyuria Polydipsia Hypercalciuria Chronic kidney disease Nephrocalcinosis Gingival overgrowth Nephrolithiasis Hematuria Paresthesia Medullary nephrocalcinosis Hypocitraturia Arthritis Congenital hypoparathyroidism Hamartoma Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Coarctation of aorta Abnormality of the cardiovascular system Facial asymmetry Stroke Blepharophimosis Telecanthus Hyperactivity Patchy osteosclerosis Hypocalcemic seizures Impaired urinary acidification Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Hypoplasia of penis Delayed myelination Bifid uvula Short foot Thin vermilion border Muscular hypotonia of the trunk Malabsorption Acidosis Aplasia cutis congenita Dental malocclusion Abnormality of color vision Flared metaphysis Bowing of the legs Metaphyseal irregularity Cone/cone-rod dystrophy Coxa vara Bowing of the long bones Recurrent otitis media Limb undergrowth Progressive visual loss Waddling gait Short metacarpal Retinal dystrophy Tibial bowing Nyctalopia Joint stiffness Hyperlordosis Visual loss Visual impairment Broad femoral neck Obstructive sleep apnea 2-3 toe syndactyly Accelerated skeletal maturation Coxa valga Hypotelorism Ventricular septal defect Cataract Femoral bowing Short finger Abdominal pain Limited elbow movement Arrhythmia Renal insufficiency Sensorineural hearing impairment Hypoplastic inferior ilia Tibial torsion Large central visual field defect Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Cone dysfunction syndrome High hypermetropia Metaphyseal cupping Spondylometaphyseal dysplasia Enlarged joints Optic nerve coloboma Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Retinal atrophy Peripheral visual field loss Iris hypopigmentation Thoracic scoliosis Macular atrophy Disproportionate short stature Generalized hyperpigmentation Abnormality of the ureter Happy demeanor Severe global developmental delay Truncal ataxia Postnatal microcephaly Open mouth Thick lower lip vermilion Narrow forehead Prominent nose Full cheeks Hypopigmentation of the skin Sleep disturbance Single transverse palmar crease Tapered finger Thick eyebrow Neurological speech impairment Finger clinodactyly Prominent nasal bridge Short philtrum Wide mouth Autistic behavior Protruding ear Aggressive behavior Anxiety Pes planus Coarse facial features Upslanted palpebral fissure Pes cavus Pneumonia Constipation Abnormal autonomic nervous system physiology Intellectual disability, progressive Encephalopathy Hodgkin lymphoma Pes valgus Abnormal pattern of respiration Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Dysphasia Abnormal palate morphology Aphasia Supernumerary nipple Overlapping toe Cupped ear Clubbing Self-injurious behavior Short metatarsal Incoordination Hypopigmented skin patches Mutism Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Clinodactyly Absent speech Arachnoid cyst Gastrointestinal atresia Cirrhosis Delayed puberty Dolichocephaly Retinopathy Abnormality of the nervous system Diabetes mellitus Depressivity Congestive heart failure Dysarthria Hepatomegaly Ossifying fibroma Anisometropia Abnormal conjunctiva morphology Decreased antibody level in blood Exstrophy Laryngeal hypoplasia Epidermal nevus Abnormality of the bladder Parietal bossing Abnormality of the penis Epibulbar dermoid Bladder exstrophy Epispadias Abnormality of nervous system morphology Lower limb asymmetry Eyelid coloboma Transient ischemic attack Hypodontia Overgrowth Talipes equinovarus Insulin-resistant diabetes mellitus Abnormality of the skeletal system Fatigue Ataxia Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Weak voice Myocardial fibrosis Microglossia Pericarditis Pigmentary retinopathy Slender long bone Pulmonary fibrosis High pitched voice Nephroblastoma Premature ovarian insufficiency Cachexia Reduced tendon reflexes Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Type II diabetes mellitus Aplasia/Hypoplasia of the nasal bone


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Sensory neuropathy, related diseases and genetic alterations Hyperreflexia and Gait ataxia, related diseases and genetic alterations Delayed speech and language development and Scarring, related diseases and genetic alterations Strabismus and Nephrolithiasis, related diseases and genetic alterations Hypertension and Bifid uvula, related diseases and genetic alterations Nystagmus and Joint laxity, related diseases and genetic alterations