Undiagnosed Frontal bossing, and Holoprosencephaly

Diseases related with Frontal bossing and Holoprosencephaly

In the following list you will find some of the most common rare diseases related to Frontal bossing and Holoprosencephaly that can help you to solve undiagnosed cases. Browse more diseases related to these clinical features.

High match HOLOPROSENCEPHALY 7; HPE7

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: MESH MONDO OMIM UMLS DOID

More info about HOLOPROSENCEPHALY 7; HPE7

Browse more diseases

High match THANATOPHORIC DYSPLASIA, TYPE II; TD2

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), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1 ) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE II; TD2 Is also known as thanatophoric dysplasia with straight femurs and cloverleaf skull, thanatophoric dysplasia with kleeblattschaedel, cloverleaf skull with thanatophoric dwarfism;).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: ORPHANET OMIM UMLS SCTID

More info about THANATOPHORIC DYSPLASIA, TYPE II; TD2

Browse more diseases

High match CHROMOSOME 13q14 DELETION SYNDROME

The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (OMIM ), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MESH ORPHANET UMLS DOID MONDO OMIM

More info about CHROMOSOME 13q14 DELETION SYNDROME

Browse more diseases

High match MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by Numakura et al., 2010).

MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 Is also known as microphthalmia and esophageal atresia syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, aeg syndrome;anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS OMIM MONDO ORPHANET SCTID GARD

More info about MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

Browse more diseases

High match PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH ) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL ), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH ), and follicle-stimulating hormone (FSH ) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (OMIM ), associated with hypogonadism, is caused by mutation in the PROP1 gene (OMIM ). CPHD3 (OMIM ), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (OMIM ). CPHD4 (OMIM ) is caused by mutation in the LHX4 gene (OMIM ). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene (OMIM ). CPHD6 (OMIM ) is caused by mutation in the OTX2 gene (OMIM ).

PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Is also known as ;congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature


SOURCES: GARD MESH OMIM UMLS ORPHANET MONDO

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

Browse more diseases

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome;mosaic variegated aneuploidy (mva) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM DOID SCTID ORPHANET

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Browse more diseases

High match OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH ).Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).

OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Is also known as hyperostosis generalisata with striations;osteopathia striata with cranial sclerosis (os-cs) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

Related symptoms:

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


SOURCES: GARD MESH MONDO EFO DOID UMLS ORPHANET OMIM SCTID

More info about OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Browse more diseases

High match JACOBSEN SYNDROME; JBS

Del(11)(q23.3); Del(11)(qter); Distal deletion 11q; Distal monosomy 11q; Monosomy 11qter; Telomeric deletion 11q

JACOBSEN SYNDROME; JBS Is also known as chromosome 11q deletion syndrome, partial 11q monosomy syndrome;jacobsen syndrome is a multiple congenital anomaly/mental retardation (mca/mr) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

Related symptoms:

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


SOURCES: OMIM NCIT GARD MONDO ORPHANET SCTID

More info about JACOBSEN SYNDROME; JBS

Browse more diseases

Medium match HARTSFIELD SYNDROME; HRTFDS

Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide et al., 2009).See also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC ), which shows phenotypic similarities.

HARTSFIELD SYNDROME; HRTFDS Is also known as holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: UMLS OMIM MESH MONDO ORPHANET

More info about HARTSFIELD SYNDROME; HRTFDS

Browse more diseases

Low match MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM MESH

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Browse more diseases

Top 5 symptoms//phenotypes associated to Frontal bossing and Holoprosencephaly

Symptoms // Phenotype % Cases
Short stature 80%
Seizures 80%
Intellectual disability 80%
Global developmental delay 70%
Microcephaly 70%
Try adding any of this symptoms in our app

Other less frequent symptoms

Patients with Frontal bossing and Holoprosencephaly. may also develop some of the following symptoms:

70% Wide nasal bridge 60% Agenesis of corpus callosum 60% Hearing impairment 60% Muscular hypotonia 60% Generalized hypotonia 60% Depressed nasal bridge 60% Growth delay 60% Autosomal dominant inheritance 60% Microphthalmia 60% Hydrocephalus 60% Epicanthus 60% Hypertelorism 60% Pica 50% Abnormal facial shape 50% Cryptorchidism 50% Low-set ears 50% Cataract 50% Ventriculomegaly 50% Anteverted nares 50% Short nose 50% Patent ductus arteriosus 40% Hypothyroidism 40% Ventricular septal defect 40% Micrognathia 40% Ptosis 40% Atrial septal defect 40% Polyhydramnios 40% Intrauterine growth retardation 40% Short neck 40% Clinodactyly of the 5th finger 40% Downslanted palpebral fissures 40% Macrocephaly 40% Posteriorly rotated ears 40% Midface retrusion 40% Cleft lip 40% Abnormality of the genital system 40% Iris coloboma 40% Hypospadias 40% Abnormal heart morphology 40% High forehead 40% Brachydactyly 40% Micropenis 40% Long philtrum 30% Motor delay 30% Hypoplastic left heart 30% Webbed neck 30% Severe global developmental delay 30% Absent septum pellucidum 30% Abnormality of the eye 30% Lobar holoprosencephaly 30% Hypoplasia of the corpus callosum 30% Dolichocephaly 30% Coloboma 30% Intellectual disability, severe 30% Strabismus 30% Autosomal recessive inheritance 30% Hypogonadism 30% Hydronephrosis 30% Postnatal growth retardation 30% Chorioretinal coloboma 30% Abnormality of cardiovascular system morphology 30% Prominent forehead 30% Cleft palate 30% Hypotelorism 30% Protruding ear 30% Low-set, posteriorly rotated ears 30% Flat occiput 30% Tics 30% Broad forehead 30% Partial agenesis of the corpus callosum 30% Coarctation of aorta 30% Multicystic kidney dysplasia 30% High palate 20% Nephroblastoma 20% Intestinal malrotation 20% Duodenal atresia 20% Camptodactyly 20% Aortic valve stenosis 20% Aplasia/Hypoplasia of the corpus callosum 20% Specific learning disability 20% Delayed eruption of teeth 20% Cleft upper lip 20% Neoplasm 20% Craniosynostosis 20% Anal atresia 20% Facial palsy 20% Osteolysis 20% Retrognathia 20% Scoliosis 20% Failure to thrive 20% Dilatation 20% Flexion contracture 20% Talipes equinovarus 20% Intellectual disability, mild 20% Sensorineural hearing impairment 20% Pectus excavatum 20% Retinal coloboma 20% Trigonocephaly 20% Abnormal vertebral morphology 20% Hand polydactyly 20% Spina bifida 20% Apnea 20% Abnormality of the skeletal system 20% Natal tooth 20% Ectopic anus 20% Abnormality of digit 20% Immunodeficiency 20% Delayed cranial suture closure 20% Depressed nasal ridge 20% Growth hormone deficiency 20% Amenorrhea 20% Ascites 20% Brachycephaly 20% Feeding difficulties in infancy 20% Hypoglycemia 20% Osteopenia 20% Constipation 20% Abnormal renal morphology 20% Malar flattening 20% Nevus 20% Small for gestational age 20% Cutaneous syndactyly 20% Anterior pituitary hypoplasia 20% Missing ribs 20% Telecanthus 20% Optic nerve hypoplasia 20% Hypogonadotrophic hypogonadism 20% Leukemia 20% Wide nose 20% Oligohydramnios 20% Sloping forehead 20% Pyloric stenosis 20% Patent foramen ovale 20% Syndactyly 20% Finger syndactyly 20% Hip dislocation 20% Flat face 20% Delayed speech and language development 20% Skeletal dysplasia 20% Severe short stature 20% Inguinal hernia 20% Hernia 20% Abnormality of the metaphysis 20% Clinodactyly 20% Long hallux 20% Sporadic 20% Alobar holoprosencephaly 20% Cognitive impairment 20% Nephrotic syndrome 20% Omphalocele 20% Thin vermilion border 20% Hypopituitarism 20% Median cleft lip and palate 20% Upslanted palpebral fissure 20% Open mouth 20% Respiratory insufficiency 20% Single transverse palmar crease 20% Oxycephaly 20% Narrow chest 20% Thin upper lip vermilion 20% Increased nuchal translucency 20% Smooth philtrum 20% Semilobar holoprosencephaly 20% Spontaneous abortion 20% Dental malocclusion 20% Prominent nose 20% Encephalocele 10% Dysphasia 10% Increased susceptibility to fractures 10% Schizophrenia 10% Visual field defect 10% Anal stenosis 10% Hypoplasia of the brainstem 10% Diabetes insipidus 10% Metaphyseal widening 10% Non-midline cleft lip 10% Poor head control 10% Bilateral camptodactyly 10% Split hand 10% Macular hypoplasia 10% Osteopetrosis 10% Pierre-Robin sequence 10% Fibular hypoplasia 10% Mixed hearing impairment 10% Annular pancreas 10% Tracheomalacia 10% Congenital thrombocytopenia 10% Aphasia 10% Mutism 10% Megakaryocyte dysplasia 10% Thickened calvaria 10% Submucous cleft hard palate 10% Neonatal hypotonia 10% Hyperostosis 10% Overfolded helix 10% Hypernatremia 10% Aplasia/Hypoplasia of the radius 10% High, narrow palate 10% Wide intermamillary distance 10% Broad nasal tip 10% Cerebral calcification 10% Thick vermilion border 10% Bifid uvula 10% Abnormality of the skin 10% Arachnodactyly 10% Thick lower lip vermilion 10% Long face 10% Microtia 10% Congenital onset 10% Hyperlordosis 10% Conductive hearing impairment 10% Absent speech 10% Gastroesophageal reflux 10% Paralysis 10% Ataxia 10% Megalocornea 10% Increased bone mineral density 10% Nasal speech 10% Ectrodactyly 10% Gonadotropin deficiency 10% Central diabetes insipidus 10% Spina bifida occulta 10% Microretrognathia 10% Narrow palate 10% Duplication of thumb phalanx 10% Lumbar hyperlordosis 10% Hypoplasia of the frontal bone 10% Aganglionic megacolon 10% Joint contracture of the hand 10% Dental crowding 10% Large fontanelles 10% X-linked dominant inheritance 10% Narrow forehead 10% Misalignment of teeth 10% Abnormality of the anus 10% Echolalia 10% Retinal dysplasia 10% Abnormality of the eyelashes 10% Talipes 10% Facial asymmetry 10% Abnormal cardiac septum morphology 10% Toe syndactyly 10% Ranula 10% Attention deficit hyperactivity disorder 10% Bipolar affective disorder 10% Autoimmune thrombocytopenia 10% Intellectual disability, moderate 10% Pes planus 10% Osteoporosis 10% Recurrent infections 10% Heart murmur 10% Recurrent respiratory infections 10% Thrombocytopenia 10% Cerebral atrophy 10% Microcornea 10% Death in infancy 10% Spasticity 10% Short thumb 10% Hammertoe 10% Azoospermia 10% Abnormal palate morphology 10% Ectropion 10% Amblyopia 10% Aplasia/Hypoplasia of the eyebrow 10% Leukodystrophy 10% Short toe 10% Pachygyria 10% Postural instability 10% Pancytopenia 10% Abnormal form of the vertebral bodies 10% Infantile muscular hypotonia 10% Nuclear cataract 10% Atrioventricular canal defect 10% Abnormal retinal morphology 10% Premature birth 10% Decreased antibody level in blood 10% Optic atrophy 10% Paranasal sinus hypoplasia 10% Broad ribs 10% Asymmetry of the thorax 10% Rough bone trabeculation 10% Toe clinodactyly 10% Clitoral hypoplasia 10% U-Shaped upper lip vermilion 10% Sclerosis of skull base 10% Thoracolumbar kyphosis 10% Flexion contracture of toe 10% Abnormality of the head 10% Otosclerosis 10% Poroma 10% Facial paralysis 10% Bone marrow hypocellularity 10% Fibular aplasia 10% Thoracic dysplasia 10% Large forehead 10% White forelock 10% Delayed closure of the anterior fontanelle 10% Ankylosis 10% Urethral stenosis 10% Broad clavicles 10% Metaphyseal striations 10% Laryngeal web 10% Nephrogenic rest 10% Eyelid coloboma 10% Broad hallux phalanx 10% Straight clavicles 10% Osteopathia striata 10% Labial hypoplasia 10% Unilateral facial palsy 10% High iliac wings 10% Aplasia/Hypoplasia of the earlobes 10% Large iliac wings 10% Diastasis recti 10% Craniofacial osteosclerosis 10% Nasolacrimal duct obstruction 10% Giant platelets 10% Laryngotracheomalacia 10% Broad columella 10% Facial hyperostosis 10% Central hypothyroidism 10% Eczema 10% Decreased cervical spine mobility 10% Headache 10% Finger clinodactyly 10% Leukocoria 10% Anteverted ears 10% Retinoblastoma 10% Thickened helices 10% Abnormality of the gastrointestinal tract 10% Aplasia/Hypoplasia of the thumb 10% Supernumerary nipple 10% Deep philtrum 10% Visual loss 10% Abnormal dermatoglyphics 10% Wide anterior fontanel 10% Everted lower lip vermilion 10% Thick eyebrow 10% Bulbous nose 10% Prominent nasal bridge 10% Wide mouth 10% Muscular hypotonia of the trunk 10% Short 5th toe 10% Congenital cataract 10% Small abnormally formed scapulae 10% Sclerocornea 10% Glandular hypospadias 10% Hypothalamic hamartoma 10% Absent gallbladder 10% Butterfly vertebrae 10% Supernumerary ribs 10% Periventricular leukomalacia 10% Rib fusion 10% 11 pairs of ribs 10% Esophageal atresia 10% Hypoplasia of penis 10% Increased number of teeth 10% Vertebral fusion 10% Anophthalmia 10% Spastic diplegia 10% Tracheoesophageal fistula 10% Hemivertebrae 10% Heterotopia 10% Spastic tetraplegia 10% Wide-cupped costochondral junctions 10% Lethal short-limbed short stature 10% Vertebral hypoplasia 10% Single median maxillary incisor 10% Kyphosis 10% Flat nasal alae 10% Fusion of the left and right thalami 10% Absent nasal septal cartilage 10% Hypoplasia of the premaxilla 10% Parietal bossing 10% Midline defect of the nose 10% Bilateral microphthalmos 10% Joint hyperflexibility 10% Broad face 10% Depressed nasal tip 10% Panhypopituitarism 10% Bilateral cleft lip 10% Bilateral cleft lip and palate 10% Median cleft lip 10% Highly arched eyebrow 10% Macrotia 10% Proptosis 10% Platyspondyly 10% Small foramen magnum 10% Cephalocele 10% Short sacroiliac notch 10% Cloverleaf skull 10% Hypoplastic ilia 10% Small face 10% Aplasia/Hypoplasia of the lungs 10% Neonatal death 10% Occipital encephalocele 10% Abnormality of neuronal migration 10% Short thorax 10% Micromelia 10% Flared metaphysis 10% Metaphyseal irregularity 10% Redundant skin 10% Acanthosis nigricans 10% Short ribs 10% Decreased fetal movement 10% Limitation of joint mobility 10% Abnormality of the kidney 10% Multiple impacted teeth 10% Cervical hemivertebrae 10% Abnormality of the dentition 10% Aortic regurgitation 10% Colon cancer 10% Combined immunodeficiency 10% Abnormality of immune system physiology 10% Bifid scrotum 10% Myelodysplasia 10% Aplasia/Hypoplasia of the cerebellum 10% Sarcoma 10% Abnormality of vision 10% Multiple cafe-au-lait spots 10% Hyperpigmentation of the skin 10% Dandy-Walker malformation 10% Intellectual disability, profound 10% Generalized tonic-clonic seizures 10% Primary amenorrhea 10% Ambiguous genitalia 10% Generalized myoclonic seizures 10% Triangular face 10% Abnormal lung lobation 10% Acute lymphoblastic leukemia 10% Renal cyst 10% Rhabdomyosarcoma 10% Pain 10% Myopathy 10% Hypodysplasia of the corpus callosum 10% Vaginal neoplasm 10% Embryonal rhabdomyosarcoma 10% Premature chromatid separation 10% Cerebral hypoplasia 10% Triangular mouth 10% Stomach cancer 10% Abnormality of the skull 10% Abnormal aortic morphology 10% Mild microcephaly 10% Subvalvular aortic stenosis 10% Short sternum 10% Intestinal polyposis 10% Abnormality of the upper limb 10% Acute leukemia 10% Multiple renal cysts 10% Abnormality of skin pigmentation 10% Muscular dystrophy 10% Proximal esophageal atresia 10% Pulmonic stenosis 10% Prolonged neonatal jaundice 10% Adrenal insufficiency 10% Aspiration 10% Hoarse voice 10% Hypotension 10% Macroglossia 10% Decreased testicular size 10% Infertility 10% Delayed puberty 10% Short attention span 10% Deeply set eye 10% Jaundice 10% Polydactyly 10% Pneumonia 10% Delayed skeletal maturation 10% Fatigue 10% Renal insufficiency 10% Edema 10% Severe postnatal growth retardation 10% Pituitary hypothyroidism 10% Corneal opacity 10% Osteoporosis of vertebrae 10% Carcinoma 10% Glaucoma 10% Cerebellar hypoplasia 10% Coma 10% Nystagmus 10% Ectopic anterior pituitary gland 10% Anterior pituitary agenesis 10% Moon facies 10% Abnormality of secondary sexual hair 10% Concave nasal ridge 10% Abnormal prolactin level 10% Septo-optic dysplasia 10% Aplasia/Hypoplasia of the breasts 10% Decreased circulating ACTH level 10% Pituitary dwarfism 10% Ectopic posterior pituitary 10% Absence of secondary sex characteristics 10% Aspiration pneumonia 10% Cortical gyral simplification



Need help with a diagnosis?

Use our search engine for rare diseases


Start searching now

Other signs and symptoms that you may find interesting

Frontal bossing and Round face, related diseases and genetic alterations