Macrocephaly, and Intestinal malrotation

Diseases related with Macrocephaly and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Macrocephaly and Intestinal malrotation that can help you solving undiagnosed cases.

Top matches:

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Other less relevant matches:

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Medium match GREENBERG DYSPLASIA

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Intestinal malrotation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Intestinal malrotation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Downslanted palpebral fissures Low-set ears Cleft palate Sensorineural hearing impairment Hearing impairment Seizures Relative macrocephaly Scoliosis Strabismus Abnormality of the skeletal system Posteriorly rotated ears Atrial septal defect Hydrocephalus Micrognathia Depressed nasal bridge Syndactyly Wide anterior fontanel Polyhydramnios Frontal bossing Generalized hypotonia Coloboma Hernia Midface retrusion Severe short stature

Rare Symptoms - Less than 30% cases

Astigmatism Congenital diaphragmatic hernia Dandy-Walker malformation Iris coloboma Postaxial hand polydactyly Abnormal cardiac septum morphology Cleft lip Cerebellar hypoplasia Talipes equinovarus Epicanthus Renal cyst Hypoplasia of the corpus callosum Ventriculomegaly Abnormal heart morphology Motor delay Talipes Pachygyria Heterotopia Skeletal dysplasia Microretrognathia Prominent forehead Edema Brachydactyly Short ribs Mesomelia Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the corpus callosum Omphalocele Splenomegaly Retinal dystrophy Platyspondyly Hydrops fetalis Telecanthus Narrow chest Agenesis of corpus callosum Polydactyly Malar flattening Short nose Micromelia Limb undergrowth Renal agenesis Broad nasal tip Broad forehead Abnormality of cholesterol metabolism Rhizomelia Patent ductus arteriosus Clinodactyly Growth delay Macular hypoplasia Abnormal cortical gyration Lissencephaly Ambiguous genitalia Low posterior hairline Facial asymmetry Bifid uvula Status epilepticus Cleft upper lip Poor speech Proteinuria Toe syndactyly Short stature Overlapping toe Diarrhea Cryptorchidism Absent septum pellucidum Submucous cleft hard palate Bilateral talipes equinovarus Osteopetrosis Large earlobe High forehead Aplasia/Hypoplasia of the skin Postaxial polydactyly Hypoplasia of the maxilla Hepatosplenomegaly Abnormal pelvis bone ossification Cardiomegaly Dermal atrophy Muscle stiffness Sandal gap Abnormality of the fingernails Finger clinodactyly Bone marrow hypocellularity Renal hypoplasia/aplasia Lymphedema Abnormal form of the vertebral bodies Cupped ear Short phalanx of finger Metatarsus adductus Bowing of the long bones Generalized osteosclerosis Abnormality of neuronal migration Abnormality of the nose Postaxial polysyndactyly of foot Anomalous pulmonary venous return Thoracic dysplasia Abnormality of the genital system Hypoplastic nasal bridge Alveolar ridge overgrowth Hepatic fibrosis Macrogyria Ambiguous genitalia, female Polycystic kidney dysplasia Total anomalous pulmonary venous return Tricuspid regurgitation Preaxial hand polydactyly Abnormality of earlobe Median cleft lip Microglossia Short tibia Dilation of lateral ventricles Hepatomegaly Abnormality of the larynx Spondylometaphyseal dysplasia Lateral clavicle hook Median cleft lip and palate Horizontal ribs Hamartoma of tongue Ambiguous genitalia, male Hypoplasia of the epiglottis Pancreatic fibrosis Shortening of the tibia Gingival fibromatosis Polysyndactyly of hallux Increased bone mineral density Disproportionate shortening of the tibia Disproportionate short-limb short stature Joint contracture of the hand Pleural effusion Sternal punctate calcifications Multiple prenatal fractures Abnormal bone ossification Absent toenail Vertebral hypoplasia Abnormal ossification involving the femoral head and neck Anterior rib punctate calcifications Sclerosis of skull base Supernumerary vertebral ossification centers Hypoplastic vertebral bodies Patchy variation in bone mineral density Long clavicles Ectopic calcification Diaphyseal thickening Metaphyseal cupping Abnormally ossified vertebrae Abnormality of the vertebral spinous processes Ulnar deviation of the hand Aplasia/hypoplasia of the extremities Short diaphyses Horizontal sacrum Abnormality of the scapula Hepatic calcification Abnormality of the orbital region Ectopic ossification Abnormal leukocyte morphology Severe short-limb dwarfism Abnormal foot bone ossification Severe hydrops fetalis Punctate vertebral calcifications Abnormality of the calcaneus Tracheal calcification Laryngeal calcification Extramedullary hematopoiesis Lethal skeletal dysplasia Flared metaphysis Retrognathia Hypertonia Abnormal joint morphology Broad palm Cystic hygroma Clinodactyly of the 5th finger Narrow mouth Narrow nasal bridge Intrauterine growth retardation Rigidity Thoracic hypoplasia Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Polymicrogyria Absent or minimally ossified vertebral bodies Anteverted nares Feeding difficulties 11 pairs of ribs Preeclampsia Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Decreased skull ossification Misalignment of teeth Calvarial skull defect Barrel-shaped chest Flexion contracture Postaxial foot polydactyly Abnormal lung lobation Microcephaly Epiphyseal stippling Nystagmus Failure to thrive Spasticity Pancreatic islet-cell hyperplasia Proptosis Cerebellar vermis hypoplasia Single transverse palmar crease Cutis laxa Abnormal intestine morphology Choanal atresia Gastrointestinal hemorrhage Abdominal distention Metabolic acidosis Anal atresia Keratitis Abnormality of the liver Acidosis Abnormality of metabolism/homeostasis Vomiting Wide nasal bridge Cervicomedullary schisis Hyponatremia Preauricular pit Mild conductive hearing impairment Secretory diarrhea Pes planus Macrotia Inguinal hernia Intellectual disability, mild Neoplasm Intractable diarrhea Protracted diarrhea Mild short stature Ureteral duplication Villous atrophy Rectovaginal fistula Optic nerve coloboma Corneal erosion Abnormality of digit Limited neck range of motion Decreased cervical spine mobility Protruding ear Broad-based gait Abnormality of the pinna Conductive hearing impairment Abnormality of cardiovascular system morphology Short neck Hypoplastic philtrum Hemolytic-uremic syndrome Hemiparesis Webbed neck Hematuria Coarse facial features Gastroesophageal reflux Constipation Tremor Hypertension Microtia Otitis media Abnormality of limb bone morphology Stiff neck Moderate hearing impairment Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Congenital muscular torticollis Posterior fossa cyst Bimanual synkinesia Fused cervical vertebrae Abnormality of the ribs External ear malformation Sprengel anomaly Vertebral fusion Mixed hearing impairment Rocker bottom foot Unilateral renal agenesis Abnormality of the genitourinary system Deeply set eye Thick vermilion border Oral cleft Progressive visual loss Long nose Epiphyseal dysplasia Prominent supraorbital ridges Aminoaciduria Abnormal vertebral morphology High myopia Retinal detachment Hypoplasia of the iris Umbilical hernia Myopia Cataract Broad neck Arachnoid cyst Protruding tongue Severe sensorineural hearing impairment Widow's peak Convex nasal ridge Delayed speech and language development Hypermetropia Pectus carinatum Craniosynostosis Micropenis Brachycephaly Respiratory insufficiency Non-acidotic proximal tubulopathy Abnormality of the uterus Low-molecular-weight proteinuria Infra-orbital crease Diaphragmatic eventration Proximal tubulopathy Short sternum Bicornuate uterus Broad hallux Short distal phalanx of finger Neutropenia Spina bifida occulta Long foot Enlarged kidney Large for gestational age Bowing of the legs Large hands Nephroblastoma Spina bifida Retinal coloboma Tall stature Renal dysplasia Mitral valve prolapse Overgrowth Round face Macroglossia Varicose veins Long hallux Short philtrum Communicating hydrocephalus Camptodactyly Upslanted palpebral fissure High palate Periventricular gray matter heterotopia Severe hydrocephalus Colpocephaly Cortical gyral simplification Renal malrotation Cholestasis Microdontia Bulbous nose Hepatic failure Joint hypermobility Optic atrophy Bifid ureter 2-4 toe syndactyly


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