Failure to thrive, and Micromelia

Diseases related with Failure to thrive and Micromelia

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


Top matches:

High match MULTIPLE OSTEOCHONDROMAS


Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses|bessel-hagen disease

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE OSTEOCHONDROMAS

High match OSTEOGENESIS IMPERFECTA, TYPE VII; OI7


Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

High match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

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Other less relevant matches:

High match PERINATAL LETHAL HYPOPHOSPHATASIA


Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

High match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

High match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

High match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

High match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

High match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

High match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Intellectual disability Limb undergrowth Abnormal facial shape Severe short stature Brachydactyly Anteverted nares Cleft palate Generalized hypotonia Muscular hypotonia Short nose Depressed nasal bridge Macrocephaly Clinodactyly Skeletal dysplasia Talipes equinovarus Postaxial hand polydactyly Renal hypoplasia/aplasia Agenesis of corpus callosum Craniosynostosis Hypertelorism Recurrent fractures Disproportionate short-limb short stature Epicanthus Ventricular septal defect Bowing of the long bones Increased susceptibility to fractures Relative macrocephaly Feeding difficulties Polyhydramnios Hand polydactyly Micrognathia Polydactyly Abnormality of cardiovascular system morphology Short ribs Strabismus Ambiguous genitalia Low-set ears Polymicrogyria Osteopenia Proptosis Pectus excavatum Postaxial polydactyly Abnormality of the dentition Motor delay Renal agenesis Posteriorly rotated ears Talipes Scoliosis Toe syndactyly High palate

Rare Symptoms - Less than 30% cases


Prominent forehead Foot polydactyly Cryptorchidism Synostosis of carpal bones Postaxial foot polydactyly Pulmonary hypoplasia Gingival overgrowth Hypospadias Short philtrum Abnormal heart morphology Intellectual disability, profound Thin vermilion border Oral cleft Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Abnormality of pelvic girdle bone morphology Delayed skeletal maturation Hydrocephalus Recurrent respiratory infections Constipation Abdominal distention Abnormality of the skeletal system Hypoplastic toenails Bone pain Cerebral atrophy Coarse facial features Submucous cleft hard palate Narrow chest Bowing of the legs Frontal bossing Ventriculomegaly Status epilepticus Rhizomelia Blue sclerae Bifid uvula Syndactyly Genu valgum Patent ductus arteriosus Clinodactyly of the 5th finger Long philtrum Respiratory insufficiency Neoplasm Hearing impairment Retrognathia Flexion contracture Short tibia Redundant skin Accessory oral frenulum Camptodactyly of finger Joint stiffness Oligohydramnios Abnormal oral mucosa morphology Short neck Radial bowing Joint dislocation Abnormal oral frenulum morphology Decreased calvarial ossification Aplasia/Hypoplasia of the corpus callosum Lissencephaly Abnormality of the ear Right-to-left shunt Preaxial hand polydactyly Choanal atresia Split hand Laryngomalacia Mesomelia Encephalocele Abnormality of the outer ear Hepatic fibrosis Renal dysplasia Genu varum Midline facial capillary hemangioma Depressed nasal ridge Macrogyria Interphalangeal joint contracture of finger Metatarsus adductus Abnormal cortical gyration Large earlobe Osteopetrosis Absent septum pellucidum Aplasia/Hypoplasia of the skin Partial agenesis of the corpus callosum Bilateral talipes equinovarus Abnormality of neuronal migration Cupped ear Generalized osteosclerosis Dermal atrophy Microretrognathia Finger clinodactyly Muscle stiffness Increased bone mineral density Joint contracture of the hand Pachygyria Intestinal malrotation Abnormality of the nose Anomalous pulmonary venous return Specific learning disability Thick anterior alveolar ridges Decreased testicular size Renal cyst High, narrow palate Wide nose Anal atresia Abnormality of eye movement Finger syndactyly Conductive hearing impairment Cerebral cortical atrophy Gingival fibromatosis 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Abnormality of cholesterol metabolism Abnormal joint morphology Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Ambiguous genitalia, male Short finger Ulnar deviation of finger Hamartoma Aplasia of the middle phalanges of the toes Upslanted palpebral fissure Congestive heart failure Abnormality of the helix Aplasia/Hypoplasia of the abdominal wall musculature Intellectual disability, severe Medulloblastoma Wide nasal bridge Hepatomegaly Hypertension Open operculum Cutaneous leiomyoma Wide mouth Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Enterocolitis Organic aciduria Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Neonatal hypotonia Hip dislocation Reduced subcutaneous adipose tissue Cutis laxa Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Anal stenosis Clitoral hypertrophy Trigonocephaly Abnormal hair pattern Failure to thrive in infancy Sacral dimple Short chin Smooth philtrum Multicystic kidney dysplasia Horseshoe kidney Bilateral single transverse palmar creases Abnormality of the genital system Omphalocele Congenital diaphragmatic hernia Tetralogy of Fallot Short metacarpal Limitation of joint mobility Hirsutism Tarsal synostosis Abnormality of the coagulation cascade Occipital encephalocele Aplasia/Hypoplasia of the tibia Bilateral lung agenesis Rectal atresia Absent testis Female pseudohermaphroditism Pseudohypoaldosteronism Conotruncal defect Renal cortical cysts Cerebral cortical hemiatrophy Hypoplasia of the ear cartilage Perineal fistula Abnormality of immune system physiology Oral synechia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormality of the gingiva Subcortical cerebral atrophy Porencephalic cyst Abnormality of the tongue Rectovaginal fistula Median cleft lip Primary adrenal insufficiency Aplasia/Hypoplasia of the mandible Microtia, third degree Hypoplasia of the brainstem Generalized-onset seizure Broad alveolar ridges Abnormality of the anus Metopic synostosis Sarcoma Optic nerve hypoplasia Hyperammonemia Aminoaciduria Hyperbilirubinemia Short toe Cholestasis Aciduria Monorchism Metabolic acidosis Short foot Hepatic failure Lactic acidosis Neurological speech impairment Pallor Acidosis Encephalopathy Optic atrophy Visual impairment Absent crus of helix Arthrogryposis multiplex congenita Agenesis of permanent teeth Telecanthus Recurrent bacterial infections Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Telangiectasia of the skin Steatorrhea Abnormality of dental morphology Urticaria Polycystic ovaries Skin ulcer Aplasia/Hypoplasia of the thymus Hyperpigmentation of the skin Lymphedema Chronic diarrhea Thickened skin Subcutaneous nodule Short palm Malabsorption Osteoporosis Abnormality of the adrenal glands Pain Externally rotated/abducted legs Abnormality of the voice Widely patent fontanelles and sutures Vertebral clefting Short lower limbs Skin dimples Metaphyseal cupping Hyperphosphatemia Premature loss of teeth Rickets Hypercalcemia Anemia Intracranial hemorrhage Hypercalciuria Nephrocalcinosis Anorexia Platyspondyly Irritability Apnea Vomiting Fever Immunodeficiency Crumpled long bones Low alkaline phosphatase Hypoplasia of the ulna Multiple exostoses Madelung deformity Abnormality of the humerus Abnormality of femur morphology Abnormality of tibia morphology Abnormality of the upper limb Exostoses Aseptic necrosis Hemiplegia/hemiparesis Abnormal pericardium morphology Elbow dislocation Cranial nerve paralysis Osteolysis Abnormality of the metaphysis Osteoarthritis Abnormal pyramidal sign Dilatation Muscle weakness Chondrosarcoma Synostosis of joints Hypoplastic pulmonary veins Vertebral compression fractures Multiple rib fractures Absent pulmonary artery Protrusio acetabuli Multiple prenatal fractures Wide cranial sutures Bronchiolitis Dentinogenesis imperfecta Breech presentation Thoracolumbar scoliosis Pelvic bone exostoses Shallow orbits Delayed cranial suture closure Delayed gross motor development Coxa vara Wormian bones Wide anterior fontanel Round face Joint laxity Hydronephrosis Rachitic rosary Unossified vertebral bodies Rigidity Short thorax Acute leukemia Aplasia/Hypoplasia of the lungs Upper limb undergrowth Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Thoracic hypoplasia Thoracic dysplasia Hypoplastic left heart Hydroureter Dextrocardia Emphysema Mild short stature Cubitus valgus Short long bone Abnormality of the fingernails Hypoplastic iliac wing Abnormality of female internal genitalia Abnormality of the nail Abnormality of the alveolar ridges Narrow mouth Splenomegaly Hypertonia Hypoplasia of the corpus callosum Downslanted palpebral fissures Spasticity Nystagmus Cone-shaped epiphyses of phalanges 2 to 5 Acetabular spurs Abnormal hair quantity Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Horizontal ribs Epispadias Abnormality of dental enamel Abnormality of the hair Skin dimple over apex of long bone angulation Cardiac arrest Aniridia Thin ribs Slender long bone Hypokinesia Flared metaphysis Hyperostosis Growth abnormality Hypocalcemia Progressive microcephaly Asplenia Decreased fetal movement Ascites Small for gestational age Micropenis Pneumonia Microphthalmia Phosphoethanolaminuria Elevated plasma pyrophosphate Elevated urine pyrophosphate Severe intrauterine growth retardation Short hallux Situs inversus totalis Cleft upper lip Heterotopia Microdontia Dandy-Walker malformation Nail dysplasia Ectodermal dysplasia Hypodontia Delayed eruption of teeth Short distal phalanx of finger Nail dystrophy Decreased skull ossification Pectus carinatum Atrial septal defect Hypoplastic spleen Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Fused sternal ossification centers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hypodontia, related diseases and genetic alterations Abnormality of the skeletal system and Limb undergrowth, related diseases and genetic alterations Macrocephaly and Broad forehead, related diseases and genetic alterations Obesity and Intestinal malrotation, related diseases and genetic alterations

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