Macrocephaly, and Split hand

Diseases related with Macrocephaly and Split hand

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

Top matches:

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Other less relevant matches:

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

AUTOSOMAL RECESSIVE ROBINOW SYNDROME Is also known as covesdem syndrome|rrs|costovertebral segmentation defect-mesomelia syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ROBINOW SYNDROME

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Macrocephaly and Split hand

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Split hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Hypertelorism Umbilical hernia Dolichocephaly Intellectual disability, profound Inguinal hernia Hepatomegaly Short neck Abnormality of the skeletal system Growth delay Scoliosis Severe global developmental delay Epicanthus Micrognathia Long philtrum Heterotopia Joint stiffness Muscular hypotonia Brachydactyly Respiratory insufficiency Short stature Proptosis Wide nasal bridge Neonatal hypotonia Dermatan sulfate excretion in urine Cryptorchidism Strabismus Abnormal heart valve morphology Cognitive impairment Abnormal facial shape Visual impairment Progressive neurologic deterioration Downslanted palpebral fissures Cardiomyopathy Congestive heart failure Splenomegaly Osteopenia Obstructive sleep apnea Hypospadias Coarse facial features Lumbar hyperlordosis Sleep apnea Myelopathy Macroglossia Hepatosplenomegaly Apnea Retinopathy Dysostosis multiplex Corneal opacity Retinal fold Ptosis Wide anterior fontanel Hypoplastic ilia Microcephaly Ventriculomegaly Atrial septal defect Patent ductus arteriosus Polyhydramnios Wide mouth Craniosynostosis Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Cervical myelopathy Generalized hypotonia Cleft upper lip Nystagmus Ventricular septal defect Failure to thrive Prominent sternum Cataract Low-set ears Cleft lip Encephalocele Flared iliac wings Constrictive median neuropathy Multiple joint contractures Skeletal muscle atrophy Hypoplasia of the odontoid process Thoracic scoliosis Sagittal craniosynostosis Wide nose Spinal canal stenosis Recurrent upper respiratory tract infections Opacification of the corneal stroma Thickened skin Decreased body weight Hip dysplasia Telecanthus Dilatation Optic atrophy Progressive visual loss Abnormality of the dentition Alopecia Recurrent respiratory infections Genu valgum Low-set, posteriorly rotated ears Camptodactyly of finger Pectus carinatum Oral cleft Downturned corners of mouth Progressive hearing impairment Broad thumb Long eyelashes Gingival overgrowth Pachygyria Sacral dimple Macrotia Pneumonia Anteverted nares Prominent forehead Pectus excavatum Posteriorly rotated ears Visual loss Delayed skeletal maturation Elevated hepatic transaminase Sensorineural hearing impairment Agenesis of corpus callosum Constipation Syndactyly Behavioral abnormality Feeding difficulties Cleft palate Hirsutism Upslanted palpebral fissure Glaucoma Increased nuchal translucency Elbow flexion contracture Recurrent otitis media Tetraparesis Micromelia Metaphyseal irregularity Thick lower lip vermilion Spastic tetraplegia Flared metaphysis Asthma Tetraplegia Short sacroiliac notch Delayed eruption of teeth Megalencephaly Neurodegeneration Spastic tetraparesis Abnormality of the cerebral white matter Flat face Attention deficit hyperactivity disorder Excessive wrinkled skin Cloverleaf skull Short femur Aplasia/Hypoplasia of the lungs Pes cavus Diarrhea Femoral bowing Abnormality of the metaphysis Redundant skin Acanthosis nigricans Intellectual disability, progressive Hypertrichosis Aortic regurgitation Scaphocephaly Hernia Intellectual disability, severe Edema Cervical cord compression Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Widely spaced teeth Abnormality of the kidney Platyspondyly Polymicrogyria Bowing of the long bones Narrow chest Severe short stature Corneal dystrophy Respiratory distress Disproportionate short-limb short stature Lethal short-limbed short stature Abnormality of the skull Short clavicles Pulmonary edema Protruding tongue Rhinitis Abnormal mitral valve morphology Thickened calvaria Arthropathy Hypoplasia of the frontal bone Seborrheic dermatitis Restrictive ventilatory defect Diastasis recti Coronary artery atherosclerosis Palpebral edema Protuberant abdomen Foam cells Upper airway obstruction Metatarsus adductus Tracheal stenosis Beaking of vertebral bodies Large earlobe Communicating hydrocephalus Recurrent lower respiratory tract infections Conical tooth Gingivitis Abnormality of the elbow Abnormality of the clavicle Shallow orbits Peripheral visual field loss Cor pulmonale Abnormality of the respiratory system Angina pectoris Spastic paraparesis Toe walking Thick eyebrow Abnormality of the skin Limitation of joint mobility Full cheeks Broad nasal tip Sleep disturbance Everted lower lip vermilion High, narrow palate Thick vermilion border Inability to walk Abnormality of skin pigmentation Abnormality of the cardiovascular system Retinal degeneration Dry skin Abnormality of eye movement Synophrys Carious teeth Stroke Nyctalopia Abnormal pyramidal sign Pallor Mental deterioration Microdontia Abnormality of the ribs Heart murmur Abnormal aortic valve morphology Stridor Language impairment Hemiplegia Back pain Prominent supraorbital ridges Increased intracranial pressure Hyperammonemia Cerebral palsy Coxa vara Abnormality of dental enamel Coxa valga Cardiomegaly Generalized hirsutism Abnormal vertebral morphology Exotropia Abnormality of epiphysis morphology Chronic diarrhea Left ventricular hypertrophy Abnormal form of the vertebral bodies Mitral regurgitation Myocardial infarction Interphalangeal joint contracture of finger Endocardial fibroelastosis Large face Hypoplasia of teeth Thick skull base Increased size of nasopharyngeal adenoids Holoprosencephaly Cutaneous syndactyly Kyphoscoliosis Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Delayed tarsal ossification Abnormality of the tympanic membrane Abnormality of joint mobility Broad ischia Aplasia/Hypoplasia of the corpus callosum Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of glycosaminoglycan metabolism Stiff interphalangeal joints Calcification of falx cerebri Ichthyosis Alopecia universalis Abnormality of skeletal morphology Short corpus callosum Sparse body hair Aplasia/Hypoplasia of the eyebrow Hypergonadotropic hypogonadism Sparse scalp hair Intrauterine growth retardation Falls Microphthalmia EEG abnormality Hypotelorism Photophobia Hyperhidrosis Intellectual disability, mild Hypogonadism Micropenis Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Protruding ear Ectodermal dysplasia Abnormality of the tonsils Hypoplasia of the femoral head Abnormality of peripheral nerve conduction Long hallux Narrow pelvis bone Gonadotropin deficiency Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Central diabetes insipidus Difficulty standing Sclerosis of skull base Abnormal nasal morphology Mucopolysacchariduria Semilobar holoprosencephaly Flared nostrils Hypernatremia Biconcave vertebral bodies Chronic rhinitis Recurrent ear infections Abnormal diaphysis morphology Duplication of thumb phalanx Diaphyseal thickening Delayed ossification of carpal bones Broad femoral neck Rhinorrhea Megalocornea Aplasia/Hypoplasia of the radius Abnormality of the pubic bone Abnormal hand morphology Abnormality of mucopolysaccharide metabolism Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Abnormality of the middle ear ossicles Enlargement of the wrists Hip subluxation Large sella turcica Atlantoaxial dislocation Abnormality of the gingiva Poor head control Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Abnormality of digit Absent septum pellucidum Ectrodactyly J-shaped sella turcica Anterior rib cupping Conductive hearing impairment Exaggerated cupid's bow Dyspnea Peripheral demyelination Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Aspiration Large fontanelles Cholestasis Gliosis Primary adrenal insufficiency Abdominal distention Ascites Renal cyst Hepatic steatosis Talipes Abnormality of the liver Feeding difficulties in infancy Retrognathia High forehead Cortical dysplasia Adrenal hypoplasia Hypoplasia of the corpus callosum Generalized cerebral atrophy/hypoplasia Hypodontia Short distal phalanx of finger Toe syndactyly Finger syndactyly Short philtrum Hydronephrosis Clinodactyly of the 5th finger Midface retrusion Short nose Calcific stippling Aspiration pneumonia Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Cerebellar atrophy Talipes equinovarus Hypoplasia of penis Craniofacial dysostosis Abnormality of retinal pigmentation Pigmentary retinopathy Postural instability Rod-cone dystrophy Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Severe platyspondyly Severe short-limb dwarfism Lethal skeletal dysplasia Exercise intolerance Small face Abnormality of neuronal migration Radioulnar synostosis Short long bone Short ribs Epidermal acanthosis Decreased fetal movement Limb undergrowth Abnormality of the sacroiliac joint Hoarse voice Incoordination High palate Aseptic necrosis Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical instability Broad ribs Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Thoracic kyphosis Metaphyseal widening Mild short stature Epiphyseal dysplasia Accelerated skeletal maturation Aortic valve stenosis Waddling gait Hypothyroidism Retinoschisis Tracheobronchomalacia Intestinal pseudo-obstruction Papilledema Tetralogy of Fallot Blue sclerae Abdominal pain Joint contracture of the hand Radial deviation of finger Impulsivity Chorioretinal coloboma Congenital contracture Pyloric stenosis Relative macrocephaly Optic nerve hypoplasia Plagiocephaly Narrow palate Gynecomastia High pitched voice Dental crowding Aganglionic megacolon Open mouth Choanal atresia Fine hair Webbed neck Prominent nose Intestinal malrotation Triangular face Bowing of the legs Broad hallux Thin vermilion border Microtia, first degree Arrhythmia Depressivity Headache Vomiting Hypertension Delayed speech and language development Facial wrinkling Auricular pit Postnatal macrocephaly Prominent fingertip pads Abnormality of the sternum Frontal upsweep of hair Abnormality of the nasopharynx Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Facial hypotonia Skin tags Anal stenosis Anteriorly placed anus Partial agenesis of the corpus callosum Single transverse palmar crease Unsteady gait Bilateral single transverse palmar creases Long palpebral fissure Ankyloglossia Abnormal aortic morphology Rib fusion Bifid tongue Broad hallux phalanx Ectopic anus Nevus flammeus Synostosis of carpal bones Increased number of teeth Abnormality of the hip bone Abnormal tricuspid valve morphology Vertebral segmentation defect Mesomelia Open bite Chronic otitis media Elbow dislocation Tented upper lip vermilion Abnormal palate morphology Sandal gap Multicystic kidney dysplasia Fingernail dysplasia Abnormal pulmonary valve morphology Anal atresia Respiratory failure Broad forehead Sparse hair Camptodactyly Intellectual disability, moderate Joint laxity Aggressive behavior Anxiety Rigidity Gastroesophageal reflux Cerebral cortical atrophy Hypoplastic female external genitalia Hyperactivity Cerebellar hypoplasia Abnormal heart morphology Clinodactyly Absent speech Abnormality of cardiovascular system morphology Gait disturbance Myopia Motor delay Spasticity Lobar holoprosencephaly


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