Failure to thrive, and Short foot

Diseases related with Failure to thrive and Short foot

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

Top matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY 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:

High match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

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

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Short foot

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Delayed skeletal maturation Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Small hand

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Downslanted palpebral fissures Anteverted nares Low-set ears Short palm Seizures Long philtrum Depressed nasal bridge Deeply set eye Thin vermilion border Midface retrusion Posteriorly rotated ears Short nose Full cheeks Cryptorchidism Feeding difficulties Postnatal growth retardation Scoliosis Microcephaly Micrognathia Abnormality of the dentition Epicanthus Intrauterine growth retardation Brachydactyly Hypoplasia of the corpus callosum Thin upper lip vermilion Hearing impairment Prominent forehead Strabismus Telecanthus Microphthalmia High palate Clinodactyly High forehead Severe short stature Joint laxity

Rare Symptoms - Less than 30% cases

Absent speech Broad foot Narrow palpebral fissure Infantile muscular hypotonia Broad palm Microcornea Delayed eruption of teeth Abnormality of the hand High anterior hairline Kyphoscoliosis Craniosynostosis Protruding ear Respiratory distress Ventriculomegaly Sparse scalp hair Anxiety Upslanted palpebral fissure Abnormality of dental enamel Short philtrum Joint hypermobility Cleft palate Abnormal form of the vertebral bodies Smooth philtrum Nystagmus Muscular hypotonia of the trunk Short neck Narrow mouth Decreased testicular size Malar flattening Plagiocephaly Micropenis Brachycephaly Wide nasal bridge Hypocalcemic seizures Motor delay Hypoparathyroidism Flexion contracture Recurrent bacterial infections Hypocalcemia Macrocephaly Pectus excavatum Gastroesophageal reflux Small for gestational age Conductive hearing impairment High, narrow palate Horseshoe kidney Specific learning disability Cerebellar atrophy Tetany Overgrowth Congenital hypoparathyroidism Intellectual disability, mild Constipation Arachnoid cyst Low-set, posteriorly rotated ears Hypogonadism Periventricular leukomalacia Synostosis of carpals/tarsals Failure of eruption of permanent teeth Spastic gait Ankle clonus Difficulty walking Clonus Hoarse voice Spastic paraparesis Slurred speech Drooling Pseudoepiphyses Delayed ossification of carpal bones Fused cervical vertebrae Rib fusion Misalignment of teeth Emotional lability Impaired vibratory sensation Hammertoe Spastic diplegia Severe failure to thrive Gait ataxia Hydronephrosis Diaphragmatic eventration Paraplegia Abnormality of the foot Genu valgum Lower limb muscle weakness Dysmetria Behavioral abnormality Distal amyotrophy Sleep disturbance Abnormal cerebellum morphology Gliosis Prominent nose Psychosis Choreoathetosis Lower limb spasticity Spasticity Progressive muscle weakness Babinski sign Abnormality of the skeletal system Dysphagia Skeletal muscle atrophy Pes cavus Hallucinations Dysarthria Hyperreflexia Spastic paraplegia Camptodactyly Cognitive impairment Muscle weakness Infantile spasms Scleroderma Soft skin Retrognathia Hyperactivity Clinodactyly of the 5th finger Hernia Atrial septal defect Talipes equinovarus Intestinal atresia Curly hair Aggressive behavior Abnormality of coagulation Tics Unilateral renal agenesis Sparse eyebrow Relative macrocephaly Severe muscular hypotonia Hemivertebrae Coarse facial features Wide mouth Exotropia Dandy-Walker malformation Short middle phalanx of finger Deep philtrum Finger clinodactyly Wormian bones Stereotypy Thick lower lip vermilion Small nail Hip dysplasia Sparse hair Broad nasal tip Tapered finger Single transverse palmar crease Large forehead Thick vermilion border Short distal phalanx of finger Attention deficit hyperactivity disorder Cerebral visual impairment Abnormality of the ribs Cerebellar vermis atrophy Mood swings Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Upper limb spasticity Morphea Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Suicidal ideation Synostosis of carpal bones Narrow forehead Autism Esotropia Arachnodactyly Facial asymmetry Hypermetropia Abnormality of the cerebral white matter Autistic behavior Developmental regression Cerebellar hypoplasia Hyperextensible hand joints Visual loss Abnormality of cardiovascular system morphology Kyphosis Ventricular septal defect Optic atrophy Visual impairment Hyperplasia of midface Carpal synostosis Renal phosphate wasting Freckling Dental crowding Narrow nose Basal ganglia calcification Long nose Hyperostosis Abnormality of dental morphology Sparse eyelashes Large fontanelles Mild global developmental delay Fine hair Short palpebral fissure Underdeveloped nasal alae Dental malocclusion Triangular face Hypoplasia of the maxilla Spinal cord compression Large earlobe Syndactyly 2-4 toe cutaneous syndactyly Widely spaced teeth Wide intermamillary distance Everted lower lip vermilion Wide nose Macrotia Hypertonia 4-5 finger syndactyly Hypoplasia of teeth Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Broad long bones Cranial hyperostosis Cutaneous syndactyly of toes Toe syndactyly Myopia Multiple lipomas High pitched voice Primary testicular failure Abdominal obesity Decreased serum testosterone level Increased circulating gonadotropin level Sparse body hair Truncal obesity Premature ovarian insufficiency Carious teeth Hypergonadotropic hypogonadism Gynecomastia Bulbous nose Neonatal hypotonia Obesity Muscular hypotonia Anemia Delayed cranial suture closure Cataract Hypocalcemic tetany Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Thin clavicles Birth length less than 3rd percentile Long clavicles Slender long bone Generalized tonic seizures Delayed closure of the anterior fontanelle Decreased skull ossification Hypomagnesemia Severe postnatal growth retardation Proportionate short stature Thin ribs Flat occiput Pendular nystagmus Tarsal synostosis Myopathy Growth hormone deficiency Delayed myelination Bifid uvula Astigmatism Corneal opacity Recurrent respiratory infections Multiple unerupted teeth Hypoplasia of penis Unerupted tooth Pseudoarthrosis Broad metacarpals Broad metatarsal Broad phalanx Abnormal bone ossification Convex nasal ridge Intestinal obstruction Chordee Abnormal cardiac septum morphology Congenital sensorineural hearing impairment Cone-shaped epiphysis Mitral regurgitation Recurrent otitis media Mitral valve prolapse Vesicoureteral reflux Abnormality of the eye Spinal canal stenosis Patchy osteosclerosis Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation External ear malformation Abnormality of the nasopharynx Nasal obstruction Broad face Abnormal peripheral nervous system morphology Inguinal hernia Depressivity Hypospadias Unilateral narrow palpebral fissure Hypoplastic areola Prominent median palatal raphe Small scrotum Platyspondyly Wide nasal ridge Large fleshy ears Long upper lip Deep plantar creases Broad philtrum Deep palmar crease Mandibular prognathia Short metacarpal Cloverleaf skull Failure to thrive in infancy Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Abnormality of the clavicle Shallow orbits Hypophosphatemia Hypoplastic toenails Increased susceptibility to fractures Limb undergrowth Short metatarsal Reduced number of teeth Disproportionate short-limb short stature Rhizomelia Short phalanx of finger Bowing of the long bones Choanal atresia Testicular torsion


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