Failure to thrive, and Dolichocephaly

Diseases related with Failure to thrive and Dolichocephaly

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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

High match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Generalized hypotonia Retrognathia Arthrogryposis multiplex congenita Intrauterine growth retardation Depressed nasal bridge Talipes equinovarus Areflexia Decreased fetal movement Scaphocephaly Hypospadias Short stature Hypoplasia of the corpus callosum Muscular hypotonia Macrotia Respiratory failure Low-set ears Macrocephaly Ptosis Intellectual disability

Rare Symptoms - Less than 30% cases

Wide nasal bridge Muscle weakness Polymicrogyria Cryptorchidism Motor delay Myopia Ventricular septal defect Severe muscular hypotonia Micropenis Gait ataxia Intellectual disability, severe Facial palsy Ventriculomegaly Hernia Long face Pachygyria Short neck Hypertension Downslanted palpebral fissures Hypogonadism Prominent nasal bridge Myopathic facies High, narrow palate Long eyelashes Flexion contracture Increased body weight Scoliosis Strabismus Wide intermamillary distance Hypertelorism Joint laxity Prominent forehead Optic atrophy Feeding difficulties Clinodactyly Relative macrocephaly Clitoral hypertrophy Abnormal lung morphology Chronic lung disease Asthma Short chin Proptosis Frontal bossing Posteriorly rotated ears Gastroesophageal reflux Camptodactyly Hypertonia Hyperreflexia Dysphagia Overlapping toe Oral-pharyngeal dysphagia Sparse eyebrow Abnormality of the skeletal system Anteverted nares Clonus Encephalopathy Elbow flexion contracture Apnea Trigonocephaly Broad forehead Hip dislocation Deep philtrum Abnormality of the foot Esotropia Hip dysplasia Muscular hypotonia of the trunk Birth length less than 3rd percentile Diabetes mellitus Heterotopia Obesity Cerebellar hypoplasia Hyperkeratosis Hypothyroidism Low-set, posteriorly rotated ears Abnormality of the cerebral white matter Hypermetropia Dysmetria Thick vermilion border Highly arched eyebrow Hypsarrhythmia Short palpebral fissure Gynecomastia Abnormality of the cerebral cortex Low anterior hairline Plagiocephaly Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Broad philtrum Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Phimosis Splenomegaly Aplasia/Hypoplasia of the ribs Genu recurvatum Weak cry Bilateral single transverse palmar creases Myopathy Kyphosis Short nose Long philtrum Abnormality of metabolism/homeostasis Inguinal hernia Joint stiffness Camptodactyly of finger Narrow chest Hypoplasia of penis Interphalangeal joint contracture of finger Open mouth Abnormality of the fingernails Gait disturbance Respiratory insufficiency due to muscle weakness Adducted thumb Failure to thrive in infancy Congenital contracture Spinal muscular atrophy Proximal placement of thumb Multiple joint contractures Thickened nuchal skin fold Tongue fasciculations Degeneration of anterior horn cells Microphallus Skin dimples Respiratory insufficiency Skeletal muscle atrophy Hip contracture Lactic acidosis Hand clenching Exaggerated startle response Hyperglycinemia Fetal distress Nonketotic hyperglycinemia Diarrhea Epicanthus Fatigue Acidosis Neonatal hypotonia Intellectual disability, moderate Feeding difficulties in infancy Growth hormone deficiency Cognitive impairment Nephrolithiasis Hypergonadotropic hypogonadism Hypocalcemia Hepatomegaly Tented upper lip vermilion Nasal speech Abnormality of mitochondrial metabolism Polyphagia Central hypotonia Neonatal hypoglycemia Severe failure to thrive Cystinuria Intellectual disability, mild Optic disc hypoplasia Delayed speech and language development Multicystic kidney dysplasia Abnormal cardiac septum morphology Small for gestational age Underdeveloped nasal alae Convex nasal ridge Ambiguous genitalia Joint hypermobility Congenital diaphragmatic hernia Hypertrichosis Smooth philtrum Recurrent urinary tract infections Narrow face Cortical gyral simplification Polyhydramnios Recurrent lower respiratory tract infections Pulmonary artery hypoplasia Microtia Postnatal growth retardation Hydrocephalus Dilatation Pectus excavatum Abnormality of the pinna Pes planus Craniosynostosis Narrow mouth Arachnodactyly Protruding ear Recurrent respiratory infections Delayed skeletal maturation Astigmatism Cataract Bronchomalacia High palate Aplasia/Hypoplasia of the patella Breast hypoplasia Patellar aplasia Labial hypoplasia Hypoplastic labia majora Tracheomalacia Autism Slender long bone Hypotelorism Immunodeficiency Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly High pitched voice Obstructive sleep apnea Broad femoral neck Emphysema Respiratory distress Atrial septal defect Bruising susceptibility Premature birth Autoimmunity Depressed nasal ridge Agenesis of corpus callosum Hepatitis Proteinuria Abnormality of the eye Stroke Severe global developmental delay Abnormality of eye movement Ichthyosis Polyneuropathy Palmoplantar keratoderma Nephrotic syndrome Progressive microcephaly Abnormality of the dentition Intellectual disability, progressive Poor head control Abnormality of vision Palmoplantar hyperkeratosis Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Cleft palate Malabsorption Nystagmus Chronic diarrhea Congestive heart failure Mitral valve prolapse Progeroid facial appearance Oligohydramnios High myopia Tall stature Cutis laxa Lipodystrophy Ectopia lentis Aortic aneurysm Reduced subcutaneous adipose tissue Aortic root aneurysm Severe intrauterine growth retardation Narrow nose Entropion Type I diabetes mellitus Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Hearing impairment Ataxia Interstitial pneumonitis Sensorineural hearing impairment Prominent occiput Peripheral neuropathy Abnormal intestine morphology Proximal spinal muscular atrophy


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