Macrocephaly, and Ectodermal dysplasia

Diseases related with Macrocephaly and Ectodermal dysplasia

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


Top matches:

Medium match CRANIOECTODERMAL DYSPLASIA 3; CED3


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

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Other less relevant matches:

Medium match HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME


Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.

HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME Is also known as shaheen syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Low match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Low match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Low match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Top 5 symptoms//phenotypes associated to Macrocephaly and Ectodermal dysplasia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Macrocephaly and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Strabismus Delayed speech and language development Seizures Micrognathia Syndactyly Visual impairment Hypertelorism Fine hair Abnormality of the dentition Conical tooth Dry skin Scoliosis Generalized hypotonia Feeding difficulties Microphthalmia Thin skin Anteverted nares Low-set ears Frontal bossing Cleft palate Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Camptodactyly Prominent nasal bridge Dental malocclusion Breast hypoplasia Nail dysplasia Tented upper lip vermilion Thin vermilion border Broad thumb Wide nose Short philtrum Intellectual disability, profound Abnormality of digit Optic atrophy Overbite Semilobar holoprosencephaly Intrauterine growth retardation Agenesis of corpus callosum Cleft lip Cleft upper lip Postnatal microcephaly Hypotelorism Hyperkeratosis Fever Holoprosencephaly Cutaneous syndactyly Generalized osteosclerosis Hyperostosis Short nose Hypoplastic nipples Increased bone mineral density Lymphedema Abnormality of skin pigmentation Carious teeth Ambiguous genitalia Hypoplasia of penis Visual loss Recurrent infections Immunodeficiency Hernia Nystagmus Hearing impairment Posteriorly rotated ears Microdontia Absent speech Malar flattening Ptosis Wide nasal bridge Downslanted palpebral fissures Talipes equinovarus Spasticity Toe syndactyly Flexion contracture Cutis laxa Craniosynostosis Joint laxity Widely spaced teeth Telecanthus Abnormal facial shape Brachydactyly Abnormality of the skeletal system Omphalocele Lobar holoprosencephaly Myopia Anodontia Eosinophilia Hypoplasia of the fovea Umbilical hernia Abnormality of the vasculature Redundant skin Abnormality of the pinna Wide mouth Camptodactyly of finger Atresia of the external auditory canal Microtia Corneal opacity Hypertrichosis Finger syndactyly Pustule Hypoplasia of the maxilla Short metacarpal Sacral dimple Uveitis Coarse hair Underdeveloped nasal alae Abnormality of the outer ear Keratitis Short chin Supernumerary nipple Abnormality of the genital system Interphalangeal joint contracture of finger Hypoplasia of the frontal bone Central diabetes insipidus Duplication of thumb phalanx Neonatal hypotonia Split hand Oral cleft Severe global developmental delay Protruding ear Low-set, posteriorly rotated ears Nail pits Micropenis Hypohidrotic ectodermal dysplasia Hypogonadism Hyperpigmented streaks Hypospadias Retinal vascular proliferation Respiratory insufficiency Epicanthus Cryptorchidism Retinal hemorrhage Encephalocele Hypernatremia Aplasia/Hypoplasia of the radius Ridged nail Thick nail Long hallux Sparse eyebrow Gonadotropin deficiency Megalocornea Breast aplasia Supernumerary ribs Scarring alopecia of scalp Ectrodactyly Absent septum pellucidum Non-midline cleft lip Diabetes insipidus Hypoplasia of the brainstem Poor head control Aplasia/Hypoplasia of the corpus callosum Hemivertebrae Absent eyebrow Ectropion Malabsorption Panhypopituitarism Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Median cleft lip Hamartoma Narrow nasal bridge Single median maxillary incisor Anophthalmia Precocious puberty Anosmia EMG: myopathic abnormalities Hemangioma Choanal atresia Depressed nasal ridge Nasal obstruction Abnormality of the nasopharynx Retinal detachment Neoplasm Erythema Skin rash Pallor Kyphoscoliosis Alopecia Cataract Failure to thrive Midnasal stenosis Nail dystrophy Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Cyclopia Papule Tetralogy of Fallot Specific learning disability Hyperpigmentation of the skin Abnormality of finger Absent nipple Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Hypodontia Labial hypoplasia Abnormal hair pattern Corneal erosion Hypoplasia of the zygomatic bone Excessive wrinkled skin Shallow orbits Abnormality of the mouth Absent eyelashes Tetraplegia Scarring Nevus Abnormal blistering of the skin Hypopigmentation of the skin Abnormal nasal morphology Renal agenesis Severe short stature Delayed eruption of teeth Premature loss of primary teeth Premature birth Asthma Iris coloboma Coloboma Hypothyroidism Intellectual disability, mild Short upper lip Long uvula Ventral hernia Absent hair Microtia, third degree Ablepharon Cryptophthalmos Abnormality of female external genitalia Growth hormone deficiency Abnormal cranial nerve morphology Fragile nails Poor speech Thick eyebrow Bulbous nose Long face Arachnodactyly Smooth philtrum Talipes Joint hyperflexibility Facial asymmetry Downturned corners of mouth Abnormality of the foot Abnormality of the cerebral white matter Broad forehead Attention deficit hyperactivity disorder Postnatal growth retardation Aggressive behavior Anxiety Thin upper lip vermilion Short palm Sleep disturbance High forehead Drooling Myopathic facies Bilateral talipes equinovarus Overlapping toe Abnormality of dental morphology Dermal atrophy Relative macrocephaly Oligodontia Microretrognathia Prominent nose Long eyelashes Dental crowding Broad-based gait Hemiparesis Short palpebral fissure Decreased testicular size Convex nasal ridge Febrile seizures Osteopenia Autism Restlessness Limb undergrowth Nephronophthisis Chronic kidney disease Sandal gap Hepatic fibrosis Rhizomelia Cholestasis Postaxial hand polydactyly Everted lower lip vermilion Hypoplasia of teeth Postaxial polydactyly Cirrhosis Stage 5 chronic kidney disease Pulmonic stenosis Narrow chest Polydactyly Rod-cone dystrophy Renal insufficiency Scaphocephaly Sagittal craniosynostosis Narrow mouth Long philtrum Hyperactivity Brachycephaly Hyperhidrosis Osteoporosis Clinodactyly of the 5th finger Inguinal hernia Midface retrusion Behavioral abnormality Peripheral pulmonary artery stenosis Intellectual disability, severe Hyperreflexia High palate Muscular hypotonia 3-4 toe syndactyly Broad nail Bilateral postaxial polydactyly Short nail Long nose Abnormality of the periventricular white matter Sparse scalp hair Facial paralysis Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Cranial hyperostosis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Osteopetrosis Mandibular osteomyelitis Aseptic necrosis Rhinitis Osteomyelitis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Joint dislocation Tooth abscess Abnormality of the vertebral endplates Bone marrow hypocellularity EEG abnormality Abnormal cardiac septum morphology Prominent forehead Abnormal heart morphology Motor delay Inability to walk Abnormality of eye movement Abnormality of the eye Gastroesophageal reflux Hepatitis Constipation Cerebellar atrophy Hypoplasia of the corpus callosum Mild microcephaly Anhidrosis Palmoplantar hyperkeratosis Hypohidrosis Hypoplasia of dental enamel Hypocalcemia Bone pain Narrow nose Median cleft palate Muscle weakness Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Toe clinodactyly Hydrocephalus Happy demeanor Pes valgus Excessive salivation Generalized osteoporosis Cleft soft palate Broad hallux phalanx Short columella Self-mutilation Anemia Edema Abnormality of epiphysis morphology Genu valgum Recurrent urinary tract infections Abnormality of the metaphysis Osteoarthritis Pancytopenia Recurrent fractures Neurodegeneration Short distal phalanx of finger Paralysis Blindness Facial palsy Arthritis Hepatosplenomegaly Mandibular prognathia Proptosis Pneumonia Thrombocytopenia Dilatation Atrophic, patchy alopecia



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