Abnormal facial shape, and Amenorrhea

Diseases related with Abnormal facial shape and Amenorrhea

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Amenorrhea that can help you solving undiagnosed cases.


Top matches:

Low match OVARIAN DYSGENESIS 7; ODG7


Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).

Related symptoms:

  • Abnormal facial shape
  • Ptosis
  • Delayed skeletal maturation
  • Hypogonadism
  • Thin upper lip vermilion


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 7; ODG7

Low match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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Other less relevant matches:

Low match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Low match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Low match CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Low match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Low match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Low match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match CROUZON DISEASE


Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Amenorrhea

Symptoms // Phenotype % cases
Primary amenorrhea Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Infertility Cerebellar hypoplasia Hyporeflexia Diabetes mellitus High palate Sensorineural hearing impairment Increased circulating gonadotropin level Acanthosis nigricans Delayed puberty Round face Hypogonadism Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Gait ataxia Ataxia Nystagmus Scoliosis Hyperparathyroidism Peripheral neuropathy Acne Intellectual disability, mild Pes cavus Osteoporosis Thin skin Generalized hirsutism Global developmental delay Prolactin excess Synophrys Hyperthyroidism Syringomyelia Depressed nasal bridge Strabismus Neoplasm Muscle weakness Nephrolithiasis Amelogenesis imperfecta Gonadal dysgenesis Secondary amenorrhea Depressivity Hirsutism Sensory neuropathy Pituitary adenoma Dysmetria Increased circulating cortisol level Motor delay Abnormality of the dentition Micrognathia Polyneuropathy Hypoplasia of the uterus Hypertelorism Hypertension Talipes equinovarus Myalgia Falls Congestive heart failure Myopathy Epicanthus Mandibular prognathia Abnormal sacrum morphology Proximal upper limb muscle hypertrophy Osteolytic defects of the phalanges of the hand Advanced eruption of teeth Decreased HDL cholesterol concentration Elevated serum creatine phosphokinase Dysdiadochokinesis Gowers sign Increased variability in muscle fiber diameter Myopathic facies Multiple lipomas Precocious atherosclerosis Xanthomatosis Poor coordination Mitochondrial myopathy Anxiety Supraventricular arrhythmia Autoimmunity Cafe-au-lait spot Tall stature Aplasia/Hypoplasia of the skin Nevus Abdominal distention Facial asymmetry Hypothyroidism Thick hair Progeroid facial appearance Hyperactivity Vomiting Blindness Enlarged interhemispheric fissure Speech articulation difficulties Schizophrenia Truncal ataxia Muscle hypertrophy of the lower extremities Distal sensory impairment Increased facial adipose tissue Decreased adiponectin level Distal muscle weakness Retinopathy Increased intraabdominal fat Acroosteolysis of distal phalanges (feet) Long face Minimal subcutaneous fat Increased adipose tissue around the neck Accelerated atherosclerosis Distal amyotrophy Pallor Decreased serum leptin Generalized hypotonia Growth delay Limb ataxia Delayed speech and language development Dysmenorrhea Tremor Loss of subcutaneous adipose tissue in limbs Narrow nasal ridge Inability to walk Small hand Sensory impairment Abnormal atrioventricular conduction Difficulty walking Pigmentary retinopathy Intention tremor Pectus excavatum Frequent falls Kyphoscoliosis Growth hormone excess Decreased liver function Choanal atresia Hypopigmented skin patches Increased intracranial pressure Sleep apnea Torticollis Conjunctivitis Narrow palate Amblyopia Dental crowding Convex nasal ridge Atresia of the external auditory canal Dental malocclusion Hypoplasia of the maxilla Iris coloboma Craniosynostosis Cleft lip Conductive hearing impairment High forehead Proptosis Arnold-Chiari malformation Trigonocephaly Prominent forehead Sagittal craniosynostosis Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Craniofacial dysostosis Lambdoidal craniosynostosis Cloverleaf skull Melanocytic nevus Gonadoblastoma Choanal stenosis Coronal craniosynostosis Abnormality of the skull Turricephaly Papilledema Shallow orbits Scaphocephaly Keratitis Brachycephaly Midface retrusion Gynecomastia Hyperostosis Reduced subcutaneous adipose tissue Osteomalacia Freckling Abnormality of the thyroid gland Pathologic fracture Neurofibromas Hypophosphatemia Adrenal insufficiency Rickets Pituitary hypothyroidism Hypercalcemia Precocious puberty Elevated alkaline phosphatase Hypercalciuria Goiter Neoplasm of the skin Nephrocalcinosis Aspiration Osteosarcoma Intestinal polyposis Headache Monostotic fibrous dysplasia Hydrocephalus Respiratory distress Respiratory insufficiency Frontal bossing Downslanted palpebral fissures Optic atrophy Visual impairment Seizures Large cafe-au-lait macules with irregular margins Craniofacial hyperostosis Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Ovarian cyst Lipoatrophy Facial erythema Coronary artery atherosclerosis Peripheral axonal neuropathy Retinal atrophy Severe sensorineural hearing impairment Spastic diplegia Hammertoe Bilateral ptosis Hyperkinesis Sensorimotor neuropathy Ophthalmoplegia Titubation Mental deterioration Abnormality of the nervous system Rod-cone dystrophy Areflexia Cerebellar atrophy Short neck Dysarthria Decreased serum testosterone level Progressive peripheral neuropathy Spasticity Camptodactyly Narrow palpebral fissure Abnormality of the hair Congenital diaphragmatic hernia Narrow forehead Microcornea Hypermetropia Blepharophimosis Telecanthus Limited extraocular movements Hernia Microphthalmia Myopia Wide nasal bridge Feeding difficulties Microcephaly Internuclear ophthalmoplegia Cognitive impairment Fetal polyuria Premature ovarian insufficiency Abnormality of cardiovascular system morphology Oligohydramnios Renal agenesis Pulmonary hypoplasia Talipes Abnormality of the kidney Proteinuria Retrognathia Low-set ears Depressed nasal ridge Cryptorchidism Cleft palate Hypergonadotropic hypogonadism Hypotelorism Underdeveloped nasal alae Deeply set eye Thin upper lip vermilion Renal hypoplasia Renal dysplasia Bilateral renal dysplasia Abnormality of female internal genitalia Sirenomelia Urethral obstruction Potter facies Urogenital fistula Nonketotic hypoglycemia Bilateral renal hypoplasia Bilateral renal agenesis Vaginal atresia Multicystic kidney dysplasia Bicornuate uterus Breech presentation Non-midline cleft lip Tracheoesophageal fistula Unilateral renal agenesis Polycystic kidney dysplasia Abnormality of the genitourinary system Abnormal intestine morphology Holoprosencephaly Cupped ear Premature graying of hair Ecchymosis Mood changes Peripheral edema Abnormality of the menstrual cycle Increased circulating ACTH level Biconcave vertebral bodies Abdominal obesity Poor wound healing Vertebral compression fractures Adrenocorticotropic hormone excess Alkalosis Meningioma Oligomenorrhea Striae distensae Truncal obesity Glucose intolerance Emotional lability Menometrorrhagia Moon facies Increased body weight Insulin resistance Skeletal muscle hypertrophy Lipodystrophy Polycystic ovaries Ventricular arrhythmia Atherosclerosis Pancreatitis Abnormality of the nail Hypertriglyceridemia Dorsocervical fat pad Hepatic steatosis Hypertrophic cardiomyopathy Splenomegaly Hepatomegaly Psychotic mentation Abnormal fear/anxiety-related behavior Macronodular adrenal hyperplasia Hypokalemia Bruising susceptibility Short finger Camptodactyly of finger Large hands Abnormality of the fingernails Abnormality of dental enamel Hypoplasia of dental enamel Bilateral sensorineural hearing impairment Cerebral calcification Ichthyosis Arrhythmia External genital hypoplasia Abnormal lacrimal duct morphology Abnormality of the breast Premature atrial contractions Female infertility Unilateral ptosis Epicanthus inversus Congenital ptosis Macular dystrophy Abnormal eyebrow morphology Osteopenia Abnormality of nail color Alopecia Obesity Kyphosis Edema Fatigue Skeletal muscle atrophy Failure to thrive Muscle flaccidity Taurodontia Abnormal nasolacrimal system morphology Abnormal hair quantity Leukonychia Thin eyebrow Pili torti High anterior hairline Abnormal toenail morphology Abnormal eyelid morphology Cartilaginous trachea



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Upslanted palpebral fissure, related diseases and genetic alterations Optic atrophy and Erythema, related diseases and genetic alterations Depressed nasal bridge and Gliosis, related diseases and genetic alterations Pain and Pes cavus, related diseases and genetic alterations Immunodeficiency and Thick vermilion border, related diseases and genetic alterations

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