Feeding difficulties, and Single transverse palmar crease

Diseases related with Feeding difficulties and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Single transverse palmar crease that can help you solving undiagnosed cases.

Top matches:

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Other less relevant matches:

Medium match DPAGT1-CDG

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Single transverse palmar crease

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Cryptorchidism Seizures Flexion contracture High palate Strabismus Posteriorly rotated ears Neonatal hypotonia Delayed speech and language development Underdeveloped nasal alae Long philtrum Severe global developmental delay Prominent nasal bridge Growth delay Poor speech Bilateral single transverse palmar creases Spasticity Low-set ears Hypertelorism Clinodactyly of the 5th finger Severe short stature Muscular hypotonia Nystagmus Camptodactyly of finger Hypothyroidism Short nose Short stature Abnormal facial shape Camptodactyly Poor suck

Rare Symptoms - Less than 30% cases

Hypertonia Finger clinodactyly Progressive microcephaly Apnea Aggressive behavior Jaundice Drooling Clinodactyly Urinary incontinence Respiratory insufficiency Motor delay Cataract Cleft palate Delayed myelination Metatarsus adductus Rocker bottom foot Central hypotonia Tented upper lip vermilion Open mouth Intrauterine growth retardation Narrow face Muscular hypotonia of the trunk Macrotia Round face Gastroesophageal reflux High forehead Cerebral cortical atrophy Absent speech Hypoplasia of the corpus callosum Feeding difficulties in infancy Narrow forehead Anteverted nares Ventriculomegaly Hypsarrhythmia Ataxia Long nose Tetraparesis Recurrent respiratory infections Small for gestational age Hyperreflexia Abnormality of the foot Prominent nose Malar flattening Hyperactivity Narrow mouth Myopathy Areflexia Epicanthus Polyhydramnios Overlapping fingers Ptosis Muscle weakness Talipes equinovarus Scoliosis Hearing impairment Hirsutism Downslanted palpebral fissures Protruding ear Joint stiffness Thick vermilion border Cortical gyral simplification Emphysema Delayed puberty Short middle phalanx of finger Laryngomalacia Sandal gap Microretrognathia Depressed nasal ridge Hallux valgus Hyperactive deep tendon reflexes Aphasia Athetosis Lumbar hyperlordosis Biparietal narrowing Growth hormone deficiency Generalized amyotrophy Bowel incontinence Hip dysplasia Myopathic facies CNS hypomyelination Hyperlordosis Microtia Prominent antihelix Intellectual disability, profound Hypertrichosis Spastic tetraparesis Leukoencephalopathy Long fingers Progressive spasticity Bulbar palsy Abnormal conjugate eye movement Hypomimic face Central apnea Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Increased thyroid-stimulating hormone level Respiratory tract infection Depressed nasal bridge Rotary nystagmus Hypoplasia of the musculature Delayed CNS myelination Frontal bossing Midface retrusion Abnormality of the neck Macroorchidism Hernia Delayed skeletal maturation Hypoplasia of the zygomatic bone Umbilical hernia Conductive hearing impairment Stenosis of the external auditory canal Tracheomalacia Subglottic stenosis Hypoplastic labia majora Hyporeflexia Spastic tetraplegia Cerebral calcification Macrogyria Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification Dysarthria Skeletal muscle atrophy Gait disturbance Intellectual disability, severe Dystonia Pectus excavatum Babinski sign Choreoathetosis Upslanted palpebral fissure Proptosis Pes planus Abnormality of the nervous system Irritability Abnormality of the pinna Spastic paraplegia Abnormality of movement Increased serum lactate Generalized muscle weakness Paraplegia Long face Inability to walk Interphalangeal joint contracture of finger Optic nerve dysplasia Poor head control Polymicrogyria Patellar aplasia Entropion Bronchomalacia Tetraplegia Tracheobronchomalacia Nasogastric tube feeding Hepatomegaly Splenomegaly Abnormal heart morphology Intellectual disability, progressive Type I diabetes mellitus Hepatosplenomegaly Muscle stiffness Flat face Stahl ear Renal cyst Pigmentary retinopathy Large fontanelles Opacification of the corneal stroma Cubitus valgus Clitoral hypertrophy Palpebral edema Clonus Epiphyseal stippling Leukodystrophy Abnormality of the helix Involuntary movements Generalized neonatal hypotonia Abnormality of extrapyramidal motor function Gait ataxia Postaxial polydactyly Abnormality of the ear Facial asymmetry Talipes Triangular face Webbed neck Congenital hip dislocation Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Multiple joint contractures Mildly elevated creatine phosphokinase Vertebral segmentation defect Tarsal synostosis Hip dislocation Abnormality of the hip bone Ulnar deviation of finger Aplasia/Hypoplasia of the radius Distal arthrogryposis Trismus Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Prominent nasolabial fold Round ear Absent phalangeal crease Anemia Tremor Arthrogryposis multiplex congenita Facial palsy Elevated hepatic transaminase Thick eyebrow Dolichocephaly Arachnodactyly High, narrow palate Decreased fetal movement Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Scaphocephaly Fetal akinesia sequence Oval face Thin upper lip vermilion Synophrys Narrow chest Highly arched eyebrow Cleft lip Wide intermamillary distance Dental crowding Long eyelashes Low anterior hairline Broad hallux Short columella Unilateral cryptorchidism Curly eyelashes Wide nasal bridge Short neck Elevated serum creatine phosphokinase Mandibular prognathia Kyphoscoliosis Cerebral atrophy Congenital cataract Smooth philtrum Abnormality of the musculature Postnatal growth retardation Autistic behavior Short philtrum Thin vermilion border Generalized myoclonic seizures Esotropia Generalized-onset seizure Nephrotic syndrome Status epilepticus Postnatal microcephaly Stereotypy Absence seizures Coarse hair Poor eye contact Autism Protruding tongue Shawl scrotum Central hypothyroidism Optic atrophy Dysphagia Edema Cerebellar atrophy Kyphosis Pneumonia Hyperhidrosis Polydactyly Rigidity Pectus carinatum EEG abnormality Constipation Exotropia Bifid uvula Infantile spasms Inverted nipples Hypoproteinemia Skin dimples Type I transferrin isoform profile Reduced antithrombin III activity Ventricular septal defect Atrial septal defect Patent ductus arteriosus Retrognathia Blepharophimosis Joint hyperflexibility Bulbous nose Specific learning disability Brachydactyly Sloping forehead Short palpebral fissure Prominent occiput Atrioventricular canal defect Submucous cleft hard palate Abnormality of the antihelix Abnormal nasolacrimal system morphology Thyroid hypoplasia Ectopic thyroid Thyroid agenesis Thyroid dysgenesis Neoplasm of the tongue Abnormality of the cheek Underfolded superior helices


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