Feeding difficulties, and Renal agenesis

Diseases related with Feeding difficulties and Renal agenesis

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

Top matches:

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Other less relevant matches:

RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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

Medium 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

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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Renal agenesis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Renal agenesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Short stature Frontal bossing Scoliosis Downslanted palpebral fissures Unilateral renal agenesis Oligohydramnios Autistic behavior Hearing impairment Failure to thrive Autism Micrognathia Talipes equinovarus Ambiguous genitalia Wide nasal bridge Hypertelorism Cryptorchidism Delayed speech and language development Hypoplasia of the corpus callosum Anteverted nares Brachydactyly Retrognathia Clinodactyly of the 5th finger Cerebral atrophy Abnormality of the kidney Muscular hypotonia Short philtrum Depressed nasal bridge Short nose Protruding ear Intrauterine growth retardation Renal hypoplasia/aplasia Macrocephaly Prominent forehead Cleft palate

Rare Symptoms - Less than 30% cases

Small nail Joint hypermobility Relative macrocephaly Low-set, posteriorly rotated ears Deeply set eye Narrow mouth Prominent nose Nystagmus Clinodactyly Flexion contracture Myopia Ventriculomegaly Recurrent respiratory infections Respiratory distress Bilateral sensorineural hearing impairment Facial asymmetry Short foot Hyperechogenic kidneys Subcortical cerebral atrophy Bifid uvula Micromelia Talipes Toe syndactyly Submucous cleft hard palate Posteriorly rotated ears Severe short stature Hypermetropia Agenesis of corpus callosum Nail dystrophy Optic atrophy High forehead Limb undergrowth Ventricular septal defect Abnormality of cardiovascular system morphology Postnatal growth retardation Renal hypoplasia Abnormality of the nervous system Renal dysplasia Thin upper lip vermilion Recurrent urinary tract infections Horseshoe kidney Renal insufficiency Stage 5 chronic kidney disease Cataract Hernia Increased bone mineral density Lobulated tongue Rectal atresia Patent ductus arteriosus Absent testis Cerebral cortical hemiatrophy Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Rigidity Telecanthus Arthrogryposis multiplex congenita Hamartoma of tongue Polymicrogyria Abnormal oral frenulum morphology Joint contracture of the hand Abnormality of the gingiva Accessory oral frenulum Porencephalic cyst Lissencephaly Bilateral lung agenesis Microretrognathia Abnormal oral mucosa morphology Status epilepticus Pachygyria Rhizomelia Finger clinodactyly Muscle stiffness Intestinal malrotation Hypertonia Syndactyly Exotropia Joint laxity Developmental regression Craniosynostosis Abnormality of the cerebral white matter Monorchism Microtia, third degree Smooth philtrum Arachnodactyly Thin vermilion border Small hand Full cheeks Esotropia Narrow forehead Abnormality of the ribs Cerebral visual impairment Aplasia/Hypoplasia of the mandible Soft skin Splenomegaly Dermal atrophy Hydrocephalus Spasticity Intestinal atresia Periventricular leukomalacia Arachnoid cyst Hemivertebrae Curly hair Abnormality of coagulation Sparse eyebrow Oral synechia Infantile muscular hypotonia Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Joint dislocation Cupped ear Renal cyst Proptosis Skeletal dysplasia Conductive hearing impairment Mesomelia Cleft lip Camptodactyly of finger Finger syndactyly Abnormality of eye movement Anal atresia Oral cleft Pulmonary hypoplasia Wide nose Postaxial polydactyly High, narrow palate Decreased testicular size Abnormality of the ear Depressed nasal ridge Hepatic fibrosis Abnormality of the outer ear Bowing of the long bones Encephalocele Split hand Choanal atresia Interphalangeal joint contracture of finger Specific learning disability Laryngomalacia Genu varum Hand polydactyly Preaxial hand polydactyly Hypoplastic toenails Postaxial hand polydactyly Cerebral cortical atrophy Polydactyly Metatarsus adductus Abnormal cortical gyration Abnormality of neuronal migration Abnormality of the tongue Short ribs Bilateral talipes equinovarus Short tibia Partial agenesis of the corpus callosum Median cleft lip Foot polydactyly Aplasia/Hypoplasia of the skin Absent septum pellucidum Primary adrenal insufficiency Occipital encephalocele Osteopetrosis Large earlobe Hamartoma Short finger Macrogyria Pectus excavatum Abnormal joint morphology 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Abnormality of cholesterol metabolism Ambiguous genitalia, female Abnormality of the nose Total anomalous pulmonary venous return Abnormality of earlobe Ambiguous genitalia, male Gingival fibromatosis Anomalous pulmonary venous return Generalized osteosclerosis Rectovaginal fistula Long philtrum Cerebellar hypoplasia Decreased numbers of nephrons Broad thumb Convex nasal ridge Sleep disturbance Feeding difficulties in infancy Obesity Recurrent infections Bifid ureter Hypoplastic left heart Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Thickened helices Poor eye contact Broad hallux Low hanging columella Deep philtrum Aggressive behavior Precocious puberty Drooling Stereotypy Tetralogy of Fallot Broad nasal tip Synophrys Hyperactivity Polysplenia Brachycephaly Hypogonadism Absent speech Abnormality of the hairline Nevus sebaceous Facial hypertrichosis Facial hemangioma Ectopic kidney Chronic kidney disease Neurodevelopmental delay Thin skin Brisk reflexes Adducted thumb Cutis laxa Aortic regurgitation Spontaneous abortion Wormian bones Triangular face Reduced subcutaneous adipose tissue Congenital cataract Hip dislocation Corneal opacity Broad forehead Osteopenia Inguinal hernia Delayed cranial suture closure Spinal canal stenosis Abnormality of the urinary system Microtia Spina bifida occulta Spina bifida Narrow face Vesicoureteral reflux Long face Poor speech Abnormal cardiac septum morphology Premature skin wrinkling Micropenis Dilatation Respiratory insufficiency Motor delay Small foramen magnum Dermal translucency Calcaneovalgus deformity 2-3 toe syndactyly Gonadal dysgenesis Visual loss Wide mouth Nail dysplasia Polyneuropathy Everted lower lip vermilion Downturned corners of mouth Short distal phalanx of finger Bulbous nose Respiratory tract infection Dandy-Walker malformation Neonatal hypotonia Coarse facial features Hyporeflexia Abnormal heart morphology Blindness Peripheral neuropathy Abnormality of the skin High myopia Unicornuate uterus Cystic renal dysplasia Kyphosis Abnormality of the dentition Cerebellar atrophy Visual impairment Profound sensorineural hearing impairment Prominent nasal tip Hypoplasia of the iris Hypsarrhythmia Severe sensorineural hearing impairment Infantile spasms Anonychia Triphalangeal thumb Abnormal dermatoglyphics Abnormality of the fingernails Short phalanx of finger Sensorineural hearing impairment Pancreatic aplasia Echolalia Elevated hepatic transaminase Sparse and thin eyebrow Large fontanelles Hypertrichosis Highly arched eyebrow Short palm Hydronephrosis Mandibular prognathia Multicystic kidney dysplasia Diabetes mellitus Malar flattening Behavioral abnormality Severe receptive language delay Self-biting Severe expressive language delay Abnormality of brain morphology Horizontal nystagmus Schizophrenia Pica Urethral stenosis Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Ureterocele Hyperconvex nail Long toe Focal impaired awareness seizure Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Shawl scrotum Long fingers Language impairment Absent crus of helix


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