Macrocephaly, and High, narrow palate

Diseases related with Macrocephaly and High, narrow palate

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

Top matches:

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

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

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

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

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and High, narrow palate

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Hypertelorism Prominent forehead Intellectual disability Micrognathia Scoliosis Frontal bossing Ptosis Short stature Brachydactyly Wide nasal bridge Midface retrusion Myopia Pectus excavatum Anteverted nares Hearing impairment Depressed nasal bridge Nystagmus Cryptorchidism Low-set ears Upslanted palpebral fissure Downslanted palpebral fissures Short neck Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Dolichocephaly Abnormality of neuronal migration Joint laxity Hypermetropia Tapered finger Thick vermilion border Developmental regression Smooth philtrum Cerebellar hypoplasia Thin upper lip vermilion Abnormality of metabolism/homeostasis Cognitive impairment Long philtrum Sleep apnea Clinodactyly Pes planus Coxa vara Intellectual disability, mild Prominent nasal bridge Mandibular prognathia Retrognathia Gastroesophageal reflux Hemivertebrae Short palm Hypospadias Open bite Relative macrocephaly Increased number of teeth Delayed speech and language development Failure to thrive Camptodactyly of finger Hypoplasia of the corpus callosum Proptosis Hyperreflexia Inguinal hernia Absent speech Low posterior hairline Specific learning disability EEG abnormality Deeply set eye Multiple cafe-au-lait spots Wide mouth Abnormality of the cerebral white matter Aggressive behavior Short philtrum Visual impairment Attention deficit hyperactivity disorder Hyperactivity Clinodactyly of the 5th finger Autism Hallux valgus Poor speech Macrotia Widely spaced teeth Abnormality of pelvic girdle bone morphology Chronic otitis media Abnormality of the metacarpal bones Spina bifida occulta Clonus Dental crowding Glossoptosis Short clavicles Sprengel anomaly Hearing abnormality Hypoplasia of the zygomatic bone Down-sloping shoulders Hypoplastic scapulae Decreased skull ossification Dystrophic toenail Open mouth Dystrophic fingernails Abnormality of the thumb Dimple chin Poor suck Brachycephaly Abnormality of dental enamel Delayed eruption of teeth Recurrent respiratory infections Skeletal dysplasia Abnormality of the dentition Broad forehead Cleft palate Carious teeth Deviated nasal septum Increased head circumference Narrow chest Perseveration Genu valgum Speech apraxia Recurrent fractures Wormian bones Left ventricular noncompaction Slender build Sloping forehead Right ventricular hypertrophy Mild global developmental delay Abnormality of the ribs Large fontanelles Abnormality of epiphysis morphology Ankylosis Thickened calvaria Osteoporosis Nasal speech Sinusitis Patent foramen ovale Hypoplasia of the maxilla Abnormal sacrum morphology Hypodontia Coxa valga Gingival overgrowth Long eyelashes Abnormal form of the vertebral bodies Blue sclerae Hypoplasia of penis Hip dysplasia Downturned corners of mouth Oligodontia Wide nose Micromelia Hip dislocation Finger syndactyly Pectus carinatum Umbilical hernia Posteriorly rotated ears Sacral dimple Elbow dislocation Alopecia Clitoral hypoplasia Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Median cleft lip and palate Long palpebral fissure Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Bifid tongue Hypoplastic labia majora Anodontia Capillary hemangioma Severe short stature Short nose Cervical C2/C3 vertebral fusion Talipes equinovarus Paraplegia Spastic paraplegia Protruding ear Intellectual disability, moderate Micropenis Babinski sign Intellectual disability, severe Spasticity Short distal phalanx of finger Microcephaly Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Falls Short foot Talipes calcaneovarus Distal lower limb amyotrophy Small forehead Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Facial hypotonia Prominent nose Restlessness Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Decreased body weight Interphalangeal joint contracture of finger Decreased testicular size Intention tremor Wide intermamillary distance Abnormal cerebellum morphology Adrenal insufficiency Intrauterine growth retardation Hypertension Growth delay Elevated long chain fatty acids Polar cataract Primary adrenal insufficiency Abnormal palate morphology Dilatation Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Abnormality of retinal pigmentation Esotropia Retinal dystrophy Hydrocephalus Craniosynostosis Severe global developmental delay Increased body weight Aortic root aneurysm Reduced subcutaneous adipose tissue Aortic aneurysm Ectopia lentis Lipodystrophy Cutis laxa Tall stature Arthrogryposis multiplex congenita High myopia Oligohydramnios Mitral valve prolapse Premature birth Bruising susceptibility Arachnodactyly Abnormality of movement Abnormality of the liver Severe intrauterine growth retardation Freckling Dystonia Ventriculomegaly Feeding difficulties Axillary freckling Lisch nodules Neoplasm of the lung Abnormality of the sternum Encephalopathy Multiple lipomas Neurofibromas Cafe-au-lait spot Triangular face Abnormality of skin pigmentation Neoplasm Cerebral atrophy Osteopenia High forehead Delayed ability to walk Optic atrophy Cataract Muscular hypotonia Sensorineural hearing impairment Recurrent hand flapping Nasogastric tube feeding Self-injurious behavior Telecanthus Sparse eyebrow Cerebral visual impairment Thick lower lip vermilion Dyskinesia Thick eyebrow Bulbous nose Autistic behavior Scaphocephaly Narrow nose Long face Gynecomastia Colpocephaly Broad philtrum Prominent metopic ridge Infantile muscular hypotonia Plagiocephaly Low anterior hairline Heterotopia Periventricular gray matter heterotopia Short palpebral fissure Hypsarrhythmia Highly arched eyebrow Polymicrogyria Dysmetria Gait ataxia Talipes calcaneovalgus Phimosis Obesity Patent ductus arteriosus Delayed puberty Abnormal cardiac septum morphology Muscular hypotonia of the trunk Neonatal hypotonia Kyphoscoliosis Narrow mouth Malar flattening Aplasia/Hypoplasia of the ribs Kyphosis Ventricular septal defect Tremor Motor delay Ataxia Abnormality of the cerebral cortex Hyperkeratosis Expressive language delay Progeroid facial appearance Hepatomegaly Synophrys Elevated hepatic transaminase Hepatosplenomegaly Coarse facial features Abdominal pain Splenomegaly Pain Macroglossia Prominent scalp veins Narrow palm Dural ectasia Pes valgus Hyperextensibility of the finger joints Entropion Joint hypermobility Memory impairment Spinal deformities Dysostosis multiplex Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Periorbital fullness Prolonged partial thromboplastin time Upper airway obstruction Episodic abdominal pain Hoarse voice Protuberant abdomen Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Cholelithiasis Hyperkinesis Generalized hirsutism Onychogryposis of fingernail


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