Failure to thrive, and Craniosynostosis

Diseases related with Failure to thrive and Craniosynostosis

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

Top matches:

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

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

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

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

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

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Severe short stature Downslanted palpebral fissures Macrocephaly Scoliosis Low-set ears Frontal bossing Increased susceptibility to fractures Microcephaly Short metacarpal Abnormal form of the vertebral bodies Hearing impairment Blue sclerae Visual impairment Osteopenia Growth delay Muscular hypotonia High palate Brachydactyly Midface retrusion Shallow orbits Motor delay Intrauterine growth retardation Malar flattening Platyspondyly Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Arnold-Chiari malformation Irritability Blindness Spondyloepimetaphyseal dysplasia Optic atrophy Abnormality of the voice Delayed skeletal maturation Short neck Anemia Crumpled long bones Decreased calvarial ossification Vertebral compression fractures Thoracolumbar scoliosis Short nose Abnormal facial shape Pathologic fracture Micrognathia Turricephaly Seizures Ptosis Feeding difficulties Delayed speech and language development Renal insufficiency Short palm Bowing of the long bones Global developmental delay Increased body weight Bruising susceptibility Choanal atresia Cloverleaf skull Disproportionate short-limb short stature Skeletal dysplasia Strabismus Long philtrum Coxa vara Respiratory insufficiency Pectus excavatum Cryptorchidism Hypospadias Recurrent fractures Rhizomelia Wormian bones Micromelia Abnormal corpus callosum morphology Relative macrocephaly Bowing of the legs Depressivity Metaphyseal cupping Bone pain Short ribs Nephrocalcinosis Short foot Hypercalciuria Intracranial hemorrhage Hypercalcemia Rickets Protruding ear Premature loss of teeth Hyperphosphatemia Short lower limbs Skin dimples Respiratory distress Vertebral clefting Widely patent fontanelles and sutures Rachitic rosary Low alkaline phosphatase Anorexia Unossified vertebral bodies Skin dimple over apex of long bone angulation Mandibular prognathia Elevated urine pyrophosphate Elevated plasma pyrophosphate Inguinal hernia Phosphoethanolaminuria Anteverted nares Delayed cranial suture closure Vomiting Apnea Acanthosis nigricans Melanocytic nevus Glomerulonephritis Laryngomalacia Increased intracranial pressure Abnormality of the metacarpal bones Abnormal palate morphology Flexion contracture Proportionate short stature Epidermal acanthosis Convex nasal ridge Dental malocclusion Migraine Nevus Hypoplasia of the maxilla Aplasia/Hypoplasia of the cerebellum Choanal stenosis Polyhydramnios Pain Recurrent respiratory infections Constipation Abnormality of the dentition Short phalanx of finger Abnormality of the skeletal system Fever Short uvula Spasticity Membranous nephropathy Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Limb undergrowth Hypophosphatemia Plagiocephaly Chorioretinal coloboma Congenital blindness Acute kidney injury Nephronophthisis External genital hypoplasia Molar tooth sign on MRI Hypoplasia of the brainstem Patent foramen ovale Optic nerve coloboma Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Renal dysplasia Encephalocele Apraxia Impaired smooth pursuit Central apnea Dandy-Walker malformation Elongated superior cerebellar peduncle Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Hypoplastic male external genitalia Agenesis of cerebellar vermis Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Accessory oral frenulum Rotary nystagmus Abnormal renal physiology Postaxial hand polydactyly Esotropia Reduced number of teeth Hypoplastic scapulae Broad phalanx Abnormal bone ossification Abnormality of the nasopharynx Renal phosphate wasting Chordee Nasal obstruction Abnormality of the clavicle Broad metacarpals Broad foot Broad palm Dry skin Hypoplastic toenails Failure to thrive in infancy Short metatarsal Broad metatarsal Pseudoarthrosis Abnormal cerebellum morphology Coloboma Renal cyst Retinal dystrophy Postaxial polydactyly Abnormality of the foot Dolichocephaly Retinopathy Camptodactyly Unerupted tooth Neonatal hypotonia Polydactyly Microphthalmia Nystagmus Ataxia Multiple unerupted teeth Hypopigmentation of the skin Cleft palate Conductive hearing impairment Premature birth Absence of renal corticomedullary differentiation Decreased osteoclast count Hypertension Myopia Dilatation Prominent forehead Gastroesophageal reflux Retrognathia Pes planus Prominent nasal bridge Arthrogryposis multiplex congenita Arachnodactyly Short corpus callosum High, narrow palate Mitral valve prolapse Extramedullary hematopoiesis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Narrow nose Severe intrauterine growth retardation Scaphocephaly Aortic root aneurysm Aortic aneurysm Oligohydramnios Ectopia lentis Lipodystrophy Cutis laxa Gray matter heterotopias Tall stature High myopia Cranial hyperostosis Generalized osteosclerosis Pes valgus Narrow chest Delayed gross motor development Breech presentation Dentinogenesis imperfecta Bronchiolitis Wide cranial sutures Multiple prenatal fractures Protrusio acetabuli Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Externally rotated/abducted legs Wide anterior fontanel Round face Ventriculomegaly Hypertonia Osteopetrosis Hepatic failure Arnold-Chiari type I malformation Severe vision loss Hydronephrosis Bone marrow hypocellularity Increased bone mineral density Brain atrophy Abnormality of skin pigmentation Cerebral atrophy Joint laxity Facial palsy Muscular hypotonia of the trunk Hepatosplenomegaly Thrombocytopenia Abnormality of metabolism/homeostasis Hyperextensibility of the finger joints Dural ectasia High forehead Short femoral neck Intellectual disability, moderate EEG abnormality Agenesis of corpus callosum Cerebellar hypoplasia Autism Hyperlordosis Autistic behavior Microtia Absent speech Thick vermilion border Cerebellar atrophy Tented upper lip vermilion Rocker bottom foot Overlapping toe Femoral bowing Abnormal pyramidal sign Skull asymmetry Brachycephaly Posteriorly rotated ears Dysarthria Wide nasal bridge Distal femoral bowing Thoracic platyspondyly Proximal femoral epiphysiolysis Slender long bone Short fourth metatarsal Narrow pelvis bone Small epiphyses Intellectual disability, severe Beaking of vertebral bodies Delayed epiphyseal ossification Epicanthus Poor speech Narrow palm Mild short stature Delayed eruption of teeth Joint hyperflexibility Lissencephaly Unilateral renal agenesis Kyphosis Edema Multiple joint contractures Abnormality of the ribs Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormality of the spinal cord Prominent scalp veins Microdontia Spastic tetraparesis Polymicrogyria Tetraparesis Sloping forehead Orbital craniosynostosis Multiple suture craniosynostosis Severe hydrops fetalis Communicating hydrocephalus Coronal craniosynostosis Central hypotonia Abnormality of the metaphysis Hyperthyroidism High pitched voice Pachygyria Abnormality of dental enamel Hydrops fetalis Heterotopia Noncommunicating hydrocephalus


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